Canonical Allele Identifier: CA1138574763

Gene: TAFAZZIN DNASE1L1

Linked Data

• ClinVar Variation Id: 2162446
• ClinVar RCV Id: RCV003091282
• dbSNP Id: rs2068324795
• gnomAD v3: X-154412071-C-G
• gnomAD v4: X-154412071-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412071C>G , CM000685.2:g.154412071C>G	GRCh38
NC_000023.10:g.153640408C>G , CM000685.1:g.153640408C>G	GRCh37
NC_000023.9:g.153293602C>G	NCBI36
NG_009634.1:g.5532C>G
NG_012884.2:g.5018G>C
NG_009634.2:g.5537C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.523C>G (TAFAZZIN)
ENST00000698235.1:n.97-15C>G (TAFAZZIN)
ENST00000698317.1:n.57C>G (TAFAZZIN)
ENST00000475699.6:c.164-15C>G (TAFAZZIN)	ENSP00000419854.3:n.164-15C>G
ENST00000476800.2:n.75-15C>G (TAFAZZIN)
ENST00000601016.6:c.110-15C>G (TAFAZZIN) MANE Select	ENSP00000469981.1:n.110-15C>G
ENST00000612012.5:c.110-15C>G (TAFAZZIN)	ENSP00000482070.2:n.110-15C>G
ENST00000612460.5:c.110-15C>G (TAFAZZIN)	ENSP00000481037.1:n.110-15C>G
ENST00000614595.2:n.453C>G (TAFAZZIN)
ENST00000615658.5:n.423-15C>G (TAFAZZIN)
ENST00000616020.5:c.164-15C>G (TAFAZZIN)	ENSP00000483636.2:n.164-15C>G
ENST00000617701.5:c.110-15C>G (TAFAZZIN)	ENSP00000481645.1:n.110-15C>G
ENST00000621647.2:n.163-15C>G (TAFAZZIN)
ENST00000652358.1:c.-57+119C>G (TAFAZZIN)	ENSP00000498464.1:n.-57+119C>G
ENST00000652390.1:c.29-15C>G (TAFAZZIN)	ENSP00000498858.1:n.29-15C>G
ENST00000652476.1:n.271-15C>G (TAFAZZIN)
ENST00000652682.1:c.110-15C>G (TAFAZZIN)	ENSP00000498288.1:n.110-15C>G
ENST00000652685.1:n.162-15C>G (TAFAZZIN)
ENST00000309585.9:c.-353G>C (DNASE1L1)	ENSP00000309168.5:n.-353G>C
ENST00000369776.8:c.163+65C>G (TAFAZZIN)	ENSP00000358791.4:n.163+65C>G
ENST00000369809.5:c.-611G>C (DNASE1L1)	ENSP00000358824.1:n.-611G>C
ENST00000393638.5:c.-268G>C (DNASE1L1)	ENSP00000377255.1:n.-268G>C
ENST00000424626.5:c.-611G>C (DNASE1L1)	ENSP00000393000.1:n.-611G>C
ENST00000432135.1:c.-749G>C (DNASE1L1)	ENSP00000410281.1:n.-749G>C
ENST00000439735.2:c.110-15C>G (TAFAZZIN)	ENSP00000398193.1:n.110-15C>G
ENST00000451865.5:c.-268G>C (DNASE1L1)	ENSP00000393346.1:n.-268G>C
ENST00000475699.5:c.110-15C>G (TAFAZZIN)	ENSP00000419854.2:n.110-15C>G
ENST00000601016.5:c.110-15C>G (TAFAZZIN)	ENSP00000469981.1:n.110-15C>G
ENST00000612012.4:c.164-15C>G (TAFAZZIN)	ENSP00000482070.1:n.164-15C>G
ENST00000612460.4:c.110-15C>G (TAFAZZIN)	ENSP00000481037.1:n.110-15C>G
ENST00000613002.4:c.110-15C>G (TAFAZZIN)	ENSP00000478154.1:n.110-15C>G
ENST00000613634.4:n.430-15C>G (TAFAZZIN)
ENST00000614595.1:n.329-15C>G (TAFAZZIN)
ENST00000615658.4:n.436-15C>G (TAFAZZIN)
ENST00000615986.4:c.110-15C>G (TAFAZZIN)	ENSP00000480133.1:n.110-15C>G
ENST00000616020.4:c.164-15C>G (TAFAZZIN)	ENSP00000483636.1:n.164-15C>G
ENST00000617701.4:c.110-15C>G (TAFAZZIN)	ENSP00000481645.1:n.110-15C>G
ENST00000620808.4:c.110-15C>G (TAFAZZIN)	ENSP00000479311.1:n.110-15C>G
ENST00000621647.1:n.395-15C>G (TAFAZZIN)
NM_000116.4:c.110-15C>G (TAFAZZIN)	NP_000107.1:n.110-15C>G
NM_001009932.2:c.-611G>C (DNASE1L1)	NP_001009932.1:n.-611G>C
NM_001009933.2:c.-353G>C (DNASE1L1)	NP_001009933.1:n.-353G>C
NM_001009934.2:c.-268G>C (DNASE1L1)	NP_001009934.1:n.-268G>C
NM_001303465.1:c.164-15C>G (TAFAZZIN)	NP_001290394.1:n.164-15C>G
NM_181311.3:c.110-15C>G (TAFAZZIN)	NP_851828.1:n.110-15C>G
NM_181312.3:c.110-15C>G (TAFAZZIN)	NP_851829.1:n.110-15C>G
NM_181313.3:c.110-15C>G (TAFAZZIN)	NP_851830.1:n.110-15C>G
NR_024048.2:n.436-15C>G (TAFAZZIN)
XM_006724836.1:c.164-15C>G (TAFAZZIN)	XP_006724899.1:n.164-15C>G
XM_006724837.1:c.164-15C>G (TAFAZZIN)	XP_006724900.1:n.164-15C>G
XM_006724839.1:c.164-15C>G (TAFAZZIN)	XP_006724902.1:n.164-15C>G
XM_006724841.2:c.-185-15C>G (TAFAZZIN)	XP_006724904.1:n.-185-15C>G
XM_006724842.2:c.-185-15C>G (TAFAZZIN)	XP_006724905.1:n.-185-15C>G
XM_011531189.1:c.164-15C>G (TAFAZZIN)	XP_011529491.1:n.164-15C>G
XR_938511.1:n.467-15C>G (TAFAZZIN)
XM_005277829.4:c.-749G>C (DNASE1L1)	XP_005277886.1:n.-749G>C
XM_006724841.4:c.-185-15C>G (TAFAZZIN)	XP_006724904.1:n.-185-15C>G
XM_006724842.4:c.-185-15C>G (TAFAZZIN)	XP_006724905.1:n.-185-15C>G
XM_017029332.1:c.-1807G>C (DNASE1L1)	XP_016884821.1:n.-1807G>C
XM_017029761.1:c.110-15C>G (TAFAZZIN)	XP_016885250.1:n.110-15C>G
XM_017029762.1:c.164-15C>G (TAFAZZIN)	XP_016885251.1:n.164-15C>G
XM_017029763.1:c.110-15C>G (TAFAZZIN)	XP_016885252.1:n.110-15C>G
XM_017029765.2:c.-185-15C>G (TAFAZZIN)	XP_016885254.1:n.-185-15C>G
XM_024452431.1:c.164-15C>G (TAFAZZIN)	XP_024308199.1:n.164-15C>G
NM_000116.5:c.110-15C>G (TAFAZZIN) MANE Select	NP_000107.1:n.110-15C>G
NM_001009933.3:c.-353G>C (DNASE1L1)	NP_001009933.1:n.-353G>C
NM_001303465.2:c.164-15C>G (TAFAZZIN)	NP_001290394.1:n.164-15C>G
NM_181311.4:c.110-15C>G (TAFAZZIN)	NP_851828.1:n.110-15C>G
NM_181312.4:c.110-15C>G (TAFAZZIN)	NP_851829.1:n.110-15C>G
NM_181313.4:c.110-15C>G (TAFAZZIN)	NP_851830.1:n.110-15C>G
NR_024048.3:n.415-15C>G (TAFAZZIN)
NM_001009932.3:c.-611G>C (DNASE1L1)	NP_001009932.1:n.-611G>C
NM_001009934.3:c.-268G>C (DNASE1L1)	NP_001009934.1:n.-268G>C