Canonical Allele Identifier: CA415180116

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153640533G>A (hg19) ; chrX:g.154412196G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412196G>A , CM000685.2:g.154412196G>A	GRCh38
NC_000023.10:g.153640533G>A , CM000685.1:g.153640533G>A	GRCh37
NC_000023.9:g.153293727G>A	NCBI36
NG_009634.1:g.5657G>A
NG_012884.2:g.4893C>T
NG_009634.2:g.5662G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.648G>A
ENST00000698235.1:n.207G>A
ENST00000698317.1:n.182G>A
ENST00000698318.1:n.43G>A
ENST00000475699.6:c.274G>A	ENSP00000419854.3:p.Asp92Asn
ENST00000476800.2:n.185G>A
ENST00000483674.3:n.111G>A
ENST00000601016.6:c.220G>A MANE Select	ENSP00000469981.1:p.Asp74Asn
ENST00000612012.5:c.220G>A	ENSP00000482070.2:p.Asp74Asn
ENST00000612460.5:c.220G>A	ENSP00000481037.1:p.Asp74Asn
ENST00000614595.2:n.578G>A
ENST00000615658.5:n.533G>A
ENST00000616020.5:c.274G>A	ENSP00000483636.2:p.Asp92Asn
ENST00000617701.5:c.220G>A	ENSP00000481645.1:p.Asp74Asn
ENST00000621647.2:n.273G>A
ENST00000652358.1:c.-57+244G>A	ENSP00000498464.1:n.-57+244G>A
ENST00000652390.1:c.139G>A	ENSP00000498858.1:p.Asp47Asn
ENST00000652476.1:n.381G>A
ENST00000652682.1:c.220G>A	ENSP00000498288.1:p.Asp74Asn
ENST00000652685.1:n.272G>A
ENST00000369776.8:c.163+190G>A	ENSP00000358791.4:n.163+190G>A
ENST00000426231.5:c.36G>A
ENST00000439735.2:c.220G>A	ENSP00000398193.1:p.Asp74Asn
ENST00000475699.5:c.220G>A	ENSP00000419854.2:p.Asp74Asn
ENST00000601016.5:c.220G>A	ENSP00000469981.1:p.Asp74Asn
ENST00000612012.4:c.274G>A	ENSP00000482070.1:p.Asp92Asn
ENST00000612460.4:c.220G>A	ENSP00000481037.1:p.Asp74Asn
ENST00000613002.4:c.220G>A	ENSP00000478154.1:p.Asp74Asn
ENST00000613634.4:n.540G>A
ENST00000614595.1:n.439G>A
ENST00000615658.4:n.546G>A
ENST00000615986.4:c.220G>A	ENSP00000480133.1:p.Asp74Asn
ENST00000616020.4:c.274G>A	ENSP00000483636.1:p.Asp92Asn
ENST00000617701.4:c.220G>A	ENSP00000481645.1:p.Asp74Asn
ENST00000620808.4:c.220G>A	ENSP00000479311.1:p.Asp74Asn
ENST00000621647.1:n.505G>A
NM_000116.4:c.220G>A	NP_000107.1:p.Asp74Asn
NM_001303465.1:c.274G>A	NP_001290394.1:p.Asp92Asn
NM_181311.3:c.220G>A	NP_851828.1:p.Asp74Asn
NM_181312.3:c.220G>A	NP_851829.1:p.Asp74Asn
NM_181313.3:c.220G>A	NP_851830.1:p.Asp74Asn
NR_024048.2:n.546G>A
XM_006724836.1:c.274G>A	XP_006724899.1:p.Asp92Asn
XM_006724837.1:c.274G>A	XP_006724900.1:p.Asp92Asn
XM_006724839.1:c.274G>A	XP_006724902.1:p.Asp92Asn
XM_006724841.2:c.-75G>A	XP_006724904.1:n.-75G>A
XM_006724842.2:c.-75G>A	XP_006724905.1:n.-75G>A
XM_011531189.1:c.274G>A	XP_011529491.1:p.Asp92Asn
XR_938511.1:n.577G>A
XM_006724841.4:c.-75G>A	XP_006724904.1:n.-75G>A
XM_006724842.4:c.-75G>A	XP_006724905.1:n.-75G>A
XM_017029761.1:c.220G>A	XP_016885250.1:p.Asp74Asn
XM_017029762.1:c.274G>A	XP_016885251.1:p.Asp92Asn
XM_017029763.1:c.220G>A	XP_016885252.1:p.Asp74Asn
XM_017029765.2:c.-75G>A	XP_016885254.1:n.-75G>A
XM_024452431.1:c.274G>A	XP_024308199.1:p.Asp92Asn
NM_000116.5:c.220G>A MANE Select	NP_000107.1:p.Asp74Asn
NM_001303465.2:c.274G>A	NP_001290394.1:p.Asp92Asn
NM_181311.4:c.220G>A	NP_851828.1:p.Asp74Asn
NM_181312.4:c.220G>A	NP_851829.1:p.Asp74Asn
NM_181313.4:c.220G>A	NP_851830.1:p.Asp74Asn
NR_024048.3:n.525G>A