Canonical Allele Identifier: CA415185458

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2184937
• ClinVar RCV Id: RCV002619614
• dbSNP Id: rs397515748
• gnomAD v2: X-153649049-G-A
• gnomAD v4: X-154420710-G-A
• COSMIC: COSM1715861
• MyVariant Identifiers: chrX:g.153649049G>A (hg19) ; chrX:g.154420710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420710G>A , CM000685.2:g.154420710G>A	GRCh38
NC_000023.10:g.153649049G>A , CM000685.1:g.153649049G>A	GRCh37
NC_000023.9:g.153302243G>A	NCBI36
NG_009634.1:g.14173G>A
NG_009634.2:g.14176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1562G>A
ENST00000698317.1:n.2178G>A
ENST00000698318.1:n.1961G>A
ENST00000698319.1:n.1324G>A
ENST00000698320.1:n.1212G>A
ENST00000470127.2:n.1225G>A
ENST00000475699.6:c.716G>A	ENSP00000419854.3:p.Arg239Gln
ENST00000483674.3:n.634G>A
ENST00000601016.6:c.752G>A MANE Select	ENSP00000469981.1:p.Arg251Gln
ENST00000612012.5:c.710G>A	ENSP00000482070.2:p.Arg237Gln
ENST00000612460.5:c.662G>A	ENSP00000481037.1:p.Arg221Gln
ENST00000614595.2:n.2099G>A
ENST00000615658.5:n.1341G>A
ENST00000616020.5:c.764G>A	ENSP00000483636.2:p.Arg255Gln
ENST00000617701.5:c.*765G>A	ENSP00000481645.1:n.*765G>A
ENST00000651139.1:c.-32G>A	ENSP00000498957.1:n.-32G>A
ENST00000652354.1:c.434G>A	ENSP00000498734.1:p.Arg145Gln
ENST00000652358.1:c.545G>A	ENSP00000498464.1:p.Arg182Gln
ENST00000652390.1:c.671G>A	ENSP00000498858.1:p.Arg224Gln
ENST00000652476.1:n.1418G>A
ENST00000652644.1:c.365G>A	ENSP00000498496.1:p.Arg122Gln
ENST00000652682.1:c.809G>A	ENSP00000498288.1:p.Arg270Gln
ENST00000652685.1:n.1105G>A
ENST00000369776.8:c.662G>A	ENSP00000358791.4:p.Arg221Gln
ENST00000426231.5:c.749G>A
ENST00000475699.5:c.710G>A	ENSP00000419854.2:p.Arg237Gln
ENST00000494912.5:n.1441G>A
ENST00000498029.1:n.210G>A
ENST00000601016.5:c.752G>A	ENSP00000469981.1:p.Arg251Gln
ENST00000612460.4:c.662G>A	ENSP00000481037.1:p.Arg221Gln
ENST00000613002.4:c.620G>A	ENSP00000478154.1:p.Arg207Gln
ENST00000615986.4:c.*480G>A	ENSP00000480133.1:n.*480G>A
NM_000116.4:c.752G>A	NP_000107.1:p.Arg251Gln
NM_001303465.1:c.764G>A	NP_001290394.1:p.Arg255Gln
NM_181311.3:c.662G>A	NP_851828.1:p.Arg221Gln
NM_181312.3:c.710G>A	NP_851829.1:p.Arg237Gln
NM_181313.3:c.620G>A	NP_851830.1:p.Arg207Gln
NR_024048.2:n.1094G>A
XM_006724836.1:c.806G>A	XP_006724899.1:p.Arg269Gln
XM_006724837.1:c.791G>A	XP_006724900.1:p.Arg264Gln
XM_006724839.1:c.674G>A	XP_006724902.1:p.Arg225Gln
XM_006724841.2:c.545G>A	XP_006724904.1:p.Arg182Gln
XM_006724842.2:c.455G>A	XP_006724905.1:p.Arg152Gln
XM_011531189.1:c.593G>A	XP_011529491.1:p.Arg198Gln
XM_011531190.1:c.545G>A	XP_011529492.1:p.Arg182Gln
XM_011531191.1:c.476G>A	XP_011529493.1:p.Arg159Gln
XM_011531192.1:c.473G>A	XP_011529494.1:p.Arg158Gln
XR_938511.1:n.1100G>A
XM_006724841.4:c.545G>A	XP_006724904.1:p.Arg182Gln
XM_006724842.4:c.455G>A	XP_006724905.1:p.Arg152Gln
XM_011531191.2:c.476G>A	XP_011529493.1:p.Arg159Gln
XM_017029761.1:c.737G>A	XP_016885250.1:p.Arg246Gln
XM_017029762.1:c.716G>A	XP_016885251.1:p.Arg239Gln
XM_017029763.1:c.539G>A	XP_016885252.1:p.Arg180Gln
XM_017029764.1:c.473G>A	XP_016885253.1:p.Arg158Gln
XM_017029765.2:c.413G>A	XP_016885254.1:p.Arg138Gln
XM_024452431.1:c.710G>A	XP_024308199.1:p.Arg237Gln
NM_000116.5:c.752G>A MANE Select	NP_000107.1:p.Arg251Gln
NM_001303465.2:c.764G>A	NP_001290394.1:p.Arg255Gln
NM_181311.4:c.662G>A	NP_851828.1:p.Arg221Gln
NM_181312.4:c.710G>A	NP_851829.1:p.Arg237Gln
NM_181313.4:c.620G>A	NP_851830.1:p.Arg207Gln
NR_024048.3:n.1073G>A