Canonical Allele Identifier: CA415177839

Gene: TAFAZZIN DNASE1L1

Linked Data

• ClinVar Variation Id: 2065777
• ClinVar RCV Id: RCV002929157
• gnomAD v4: X-154411844-A-G
• MyVariant Identifiers: chrX:g.153640181A>G (hg19) ; chrX:g.154411844A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154411844A>G , CM000685.2:g.154411844A>G	GRCh38
NC_000023.10:g.153640181A>G , CM000685.1:g.153640181A>G	GRCh37
NC_000023.9:g.153293375A>G	NCBI36
NG_009634.1:g.5305A>G
NG_012884.2:g.5245T>C
NG_009634.2:g.5310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.296A>G (TAFAZZIN)
ENST00000475699.6:c.1A>G (TAFAZZIN)	ENSP00000419854.3:p.Met1Val
ENST00000601016.6:c.1A>G (TAFAZZIN) MANE Select	ENSP00000469981.1:p.Met1Val
ENST00000612012.5:c.1A>G (TAFAZZIN)	ENSP00000482070.2:p.Met1Val
ENST00000612460.5:c.1A>G (TAFAZZIN)	ENSP00000481037.1:p.Met1Val
ENST00000614595.2:n.226A>G (TAFAZZIN)
ENST00000615658.5:n.260A>G (TAFAZZIN)
ENST00000616020.5:c.1A>G (TAFAZZIN)	ENSP00000483636.2:p.Met1Val
ENST00000617701.5:c.1A>G (TAFAZZIN)	ENSP00000481645.1:p.Met1Val
ENST00000621647.2:n.54A>G (TAFAZZIN)
ENST00000652476.1:n.162A>G (TAFAZZIN)
ENST00000652682.1:c.1A>G (TAFAZZIN)	ENSP00000498288.1:p.Met1Val
ENST00000652685.1:n.53A>G (TAFAZZIN)
ENST00000309585.9:c.-173+47T>C (DNASE1L1)	ENSP00000309168.5:n.-173+47T>C
ENST00000369776.8:c.1A>G (TAFAZZIN)	ENSP00000358791.4:p.Met1Val
ENST00000369809.5:c.-431+47T>C (DNASE1L1)	ENSP00000358824.1:n.-431+47T>C
ENST00000393638.5:c.-88+47T>C (DNASE1L1)	ENSP00000377255.1:n.-88+47T>C
ENST00000424626.5:c.-431+47T>C (DNASE1L1)	ENSP00000393000.1:n.-431+47T>C
ENST00000432135.1:c.-569+47T>C (DNASE1L1)	ENSP00000410281.1:n.-569+47T>C
ENST00000439735.2:c.1A>G (TAFAZZIN)	ENSP00000398193.1:p.Met1Val
ENST00000451865.5:c.-88+47T>C (DNASE1L1)	ENSP00000393346.1:n.-88+47T>C
ENST00000475699.5:c.1A>G (TAFAZZIN)	ENSP00000419854.2:p.Met1Val
ENST00000601016.5:c.1A>G (TAFAZZIN)	ENSP00000469981.1:p.Met1Val
ENST00000612012.4:c.1A>G (TAFAZZIN)	ENSP00000482070.1:p.Met1Val
ENST00000612460.4:c.1A>G (TAFAZZIN)	ENSP00000481037.1:p.Met1Val
ENST00000613002.4:c.1A>G (TAFAZZIN)	ENSP00000478154.1:p.Met1Val
ENST00000613634.4:n.321A>G (TAFAZZIN)
ENST00000614595.1:n.220A>G (TAFAZZIN)
ENST00000615658.4:n.327A>G (TAFAZZIN)
ENST00000615986.4:c.1A>G (TAFAZZIN)	ENSP00000480133.1:p.Met1Val
ENST00000616020.4:c.1A>G (TAFAZZIN)	ENSP00000483636.1:p.Met1Val
ENST00000617701.4:c.1A>G (TAFAZZIN)	ENSP00000481645.1:p.Met1Val
ENST00000620808.4:c.1A>G (TAFAZZIN)	ENSP00000479311.1:p.Met1Val
ENST00000621647.1:n.286A>G (TAFAZZIN)
NM_000116.4:c.1A>G (TAFAZZIN)	NP_000107.1:p.Met1Val
NM_001009932.2:c.-431+47T>C (DNASE1L1)	NP_001009932.1:n.-431+47T>C
NM_001009933.2:c.-173+47T>C (DNASE1L1)	NP_001009933.1:n.-173+47T>C
NM_001009934.2:c.-88+47T>C (DNASE1L1)	NP_001009934.1:n.-88+47T>C
NM_001303465.1:c.1A>G (TAFAZZIN)	NP_001290394.1:p.Met1Val
NM_181311.3:c.1A>G (TAFAZZIN)	NP_851828.1:p.Met1Val
NM_181312.3:c.1A>G (TAFAZZIN)	NP_851829.1:p.Met1Val
NM_181313.3:c.1A>G (TAFAZZIN)	NP_851830.1:p.Met1Val
NR_024048.2:n.327A>G (TAFAZZIN)
XM_005277829.3:c.-569+47T>C (DNASE1L1)	XP_005277886.1:n.-569+47T>C
XM_006724836.1:c.1A>G (TAFAZZIN)	XP_006724899.1:p.Met1Val
XM_006724837.1:c.1A>G (TAFAZZIN)	XP_006724900.1:p.Met1Val
XM_006724839.1:c.1A>G (TAFAZZIN)	XP_006724902.1:p.Met1Val
XM_011531189.1:c.1A>G (TAFAZZIN)	XP_011529491.1:p.Met1Val
XR_938511.1:n.304A>G (TAFAZZIN)
XM_005277829.4:c.-569+47T>C (DNASE1L1)	XP_005277886.1:n.-569+47T>C
XM_006724841.4:c.-294A>G (TAFAZZIN)	XP_006724904.1:n.-294A>G
XM_006724842.4:c.-294A>G (TAFAZZIN)	XP_006724905.1:n.-294A>G
XM_017029332.1:c.-1627+47T>C (DNASE1L1)	XP_016884821.1:n.-1627+47T>C
XM_017029761.1:c.1A>G (TAFAZZIN)	XP_016885250.1:p.Met1Val
XM_017029762.1:c.1A>G (TAFAZZIN)	XP_016885251.1:p.Met1Val
XM_017029763.1:c.1A>G (TAFAZZIN)	XP_016885252.1:p.Met1Val
XM_017029765.2:c.-294A>G (TAFAZZIN)	XP_016885254.1:n.-294A>G
XM_024452431.1:c.1A>G (TAFAZZIN)	XP_024308199.1:p.Met1Val
NM_000116.5:c.1A>G (TAFAZZIN) MANE Select	NP_000107.1:p.Met1Val
NM_001009933.3:c.-173+47T>C (DNASE1L1)	NP_001009933.1:n.-173+47T>C
NM_001303465.2:c.1A>G (TAFAZZIN)	NP_001290394.1:p.Met1Val
NM_181311.4:c.1A>G (TAFAZZIN)	NP_851828.1:p.Met1Val
NM_181312.4:c.1A>G (TAFAZZIN)	NP_851829.1:p.Met1Val
NM_181313.4:c.1A>G (TAFAZZIN)	NP_851830.1:p.Met1Val
NR_024048.3:n.306A>G (TAFAZZIN)
NM_001009932.3:c.-431+47T>C (DNASE1L1)	NP_001009932.1:n.-431+47T>C
NM_001009934.3:c.-88+47T>C (DNASE1L1)	NP_001009934.1:n.-88+47T>C