Canonical Allele Identifier: CA415179321

Gene: TAFAZZIN DNASE1L1

Linked Data

• MyVariant Identifiers: chrX:g.153640428A>C (hg19) ; chrX:g.154412091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412091A>C , CM000685.2:g.154412091A>C	GRCh38
NC_000023.10:g.153640428A>C , CM000685.1:g.153640428A>C	GRCh37
NC_000023.9:g.153293622A>C	NCBI36
NG_009634.1:g.5552A>C
NG_012884.2:g.4998T>G
NG_009634.2:g.5557A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.543A>C (TAFAZZIN)
ENST00000698235.1:n.102A>C (TAFAZZIN)
ENST00000698317.1:n.77A>C (TAFAZZIN)
ENST00000475699.6:c.169A>C (TAFAZZIN)	ENSP00000419854.3:p.Met57Leu
ENST00000476800.2:n.80A>C (TAFAZZIN)
ENST00000483674.3:n.6A>C (TAFAZZIN)
ENST00000601016.6:c.115A>C (TAFAZZIN) MANE Select	ENSP00000469981.1:p.Met39Leu
ENST00000612012.5:c.115A>C (TAFAZZIN)	ENSP00000482070.2:p.Met39Leu
ENST00000612460.5:c.115A>C (TAFAZZIN)	ENSP00000481037.1:p.Met39Leu
ENST00000614595.2:n.473A>C (TAFAZZIN)
ENST00000615658.5:n.428A>C (TAFAZZIN)
ENST00000616020.5:c.169A>C (TAFAZZIN)	ENSP00000483636.2:p.Met57Leu
ENST00000617701.5:c.115A>C (TAFAZZIN)	ENSP00000481645.1:p.Met39Leu
ENST00000621647.2:n.168A>C (TAFAZZIN)
ENST00000652358.1:c.-57+139A>C (TAFAZZIN)	ENSP00000498464.1:n.-57+139A>C
ENST00000652390.1:c.34A>C (TAFAZZIN)	ENSP00000498858.1:p.Met12Leu
ENST00000652476.1:n.276A>C (TAFAZZIN)
ENST00000652682.1:c.115A>C (TAFAZZIN)	ENSP00000498288.1:p.Met39Leu
ENST00000652685.1:n.167A>C (TAFAZZIN)
ENST00000309585.9:c.-373T>G (DNASE1L1)	ENSP00000309168.5:n.-373T>G
ENST00000369776.8:c.163+85A>C (TAFAZZIN)	ENSP00000358791.4:n.163+85A>C
ENST00000424626.5:c.-631T>G (DNASE1L1)	ENSP00000393000.1:n.-631T>G
ENST00000439735.2:c.115A>C (TAFAZZIN)	ENSP00000398193.1:p.Met39Leu
ENST00000475699.5:c.115A>C (TAFAZZIN)	ENSP00000419854.2:p.Met39Leu
ENST00000601016.5:c.115A>C (TAFAZZIN)	ENSP00000469981.1:p.Met39Leu
ENST00000612012.4:c.169A>C (TAFAZZIN)	ENSP00000482070.1:p.Met57Leu
ENST00000612460.4:c.115A>C (TAFAZZIN)	ENSP00000481037.1:p.Met39Leu
ENST00000613002.4:c.115A>C (TAFAZZIN)	ENSP00000478154.1:p.Met39Leu
ENST00000613634.4:n.435A>C (TAFAZZIN)
ENST00000614595.1:n.334A>C (TAFAZZIN)
ENST00000615658.4:n.441A>C (TAFAZZIN)
ENST00000615986.4:c.115A>C (TAFAZZIN)	ENSP00000480133.1:p.Met39Leu
ENST00000616020.4:c.169A>C (TAFAZZIN)	ENSP00000483636.1:p.Met57Leu
ENST00000617701.4:c.115A>C (TAFAZZIN)	ENSP00000481645.1:p.Met39Leu
ENST00000620808.4:c.115A>C (TAFAZZIN)	ENSP00000479311.1:p.Met39Leu
ENST00000621647.1:n.400A>C (TAFAZZIN)
NM_000116.4:c.115A>C (TAFAZZIN)	NP_000107.1:p.Met39Leu
NM_001009932.2:c.-631T>G (DNASE1L1)	NP_001009932.1:n.-631T>G
NM_001009933.2:c.-373T>G (DNASE1L1)	NP_001009933.1:n.-373T>G
NM_001009934.2:c.-288T>G (DNASE1L1)	NP_001009934.1:n.-288T>G
NM_001303465.1:c.169A>C (TAFAZZIN)	NP_001290394.1:p.Met57Leu
NM_181311.3:c.115A>C (TAFAZZIN)	NP_851828.1:p.Met39Leu
NM_181312.3:c.115A>C (TAFAZZIN)	NP_851829.1:p.Met39Leu
NM_181313.3:c.115A>C (TAFAZZIN)	NP_851830.1:p.Met39Leu
NR_024048.2:n.441A>C (TAFAZZIN)
XM_006724836.1:c.169A>C (TAFAZZIN)	XP_006724899.1:p.Met57Leu
XM_006724837.1:c.169A>C (TAFAZZIN)	XP_006724900.1:p.Met57Leu
XM_006724839.1:c.169A>C (TAFAZZIN)	XP_006724902.1:p.Met57Leu
XM_006724841.2:c.-180A>C (TAFAZZIN)	XP_006724904.1:n.-180A>C
XM_006724842.2:c.-180A>C (TAFAZZIN)	XP_006724905.1:n.-180A>C
XM_011531189.1:c.169A>C (TAFAZZIN)	XP_011529491.1:p.Met57Leu
XR_938511.1:n.472A>C (TAFAZZIN)
XM_006724841.4:c.-180A>C (TAFAZZIN)	XP_006724904.1:n.-180A>C
XM_006724842.4:c.-180A>C (TAFAZZIN)	XP_006724905.1:n.-180A>C
XM_017029332.1:c.-1827T>G (DNASE1L1)	XP_016884821.1:n.-1827T>G
XM_017029761.1:c.115A>C (TAFAZZIN)	XP_016885250.1:p.Met39Leu
XM_017029762.1:c.169A>C (TAFAZZIN)	XP_016885251.1:p.Met57Leu
XM_017029763.1:c.115A>C (TAFAZZIN)	XP_016885252.1:p.Met39Leu
XM_017029765.2:c.-180A>C (TAFAZZIN)	XP_016885254.1:n.-180A>C
XM_024452431.1:c.169A>C (TAFAZZIN)	XP_024308199.1:p.Met57Leu
NM_000116.5:c.115A>C (TAFAZZIN) MANE Select	NP_000107.1:p.Met39Leu
NM_001009933.3:c.-373T>G (DNASE1L1)	NP_001009933.1:n.-373T>G
NM_001303465.2:c.169A>C (TAFAZZIN)	NP_001290394.1:p.Met57Leu
NM_181311.4:c.115A>C (TAFAZZIN)	NP_851828.1:p.Met39Leu
NM_181312.4:c.115A>C (TAFAZZIN)	NP_851829.1:p.Met39Leu
NM_181313.4:c.115A>C (TAFAZZIN)	NP_851830.1:p.Met39Leu
NR_024048.3:n.420A>C (TAFAZZIN)
NM_001009932.3:c.-631T>G (DNASE1L1)	NP_001009932.1:n.-631T>G
NM_001009934.3:c.-288T>G (DNASE1L1)	NP_001009934.1:n.-288T>G