Canonical Allele Identifier: CA415185433

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649040T>A (hg19) ; chrX:g.154420701T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420701T>A , CM000685.2:g.154420701T>A	GRCh38
NC_000023.10:g.153649040T>A , CM000685.1:g.153649040T>A	GRCh37
NC_000023.9:g.153302234T>A	NCBI36
NG_009634.1:g.14164T>A
NG_009634.2:g.14167T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1553T>A
ENST00000698317.1:n.2169T>A
ENST00000698318.1:n.1952T>A
ENST00000698319.1:n.1315T>A
ENST00000698320.1:n.1203T>A
ENST00000470127.2:n.1216T>A
ENST00000475699.6:c.707T>A	ENSP00000419854.3:p.Val236Glu
ENST00000483674.3:n.625T>A
ENST00000601016.6:c.743T>A MANE Select	ENSP00000469981.1:p.Val248Glu
ENST00000612012.5:c.701T>A	ENSP00000482070.2:p.Val234Glu
ENST00000612460.5:c.653T>A	ENSP00000481037.1:p.Val218Glu
ENST00000614595.2:n.2090T>A
ENST00000615658.5:n.1332T>A
ENST00000616020.5:c.755T>A	ENSP00000483636.2:p.Val252Glu
ENST00000617701.5:c.*756T>A	ENSP00000481645.1:n.*756T>A
ENST00000651139.1:c.-41T>A	ENSP00000498957.1:n.-41T>A
ENST00000652354.1:c.425T>A	ENSP00000498734.1:p.Val142Glu
ENST00000652358.1:c.536T>A	ENSP00000498464.1:p.Val179Glu
ENST00000652390.1:c.662T>A	ENSP00000498858.1:p.Val221Glu
ENST00000652476.1:n.1409T>A
ENST00000652644.1:c.356T>A	ENSP00000498496.1:p.Val119Glu
ENST00000652682.1:c.800T>A	ENSP00000498288.1:p.Val267Glu
ENST00000652685.1:n.1096T>A
ENST00000369776.8:c.653T>A	ENSP00000358791.4:p.Val218Glu
ENST00000426231.5:c.740T>A
ENST00000475699.5:c.701T>A	ENSP00000419854.2:p.Val234Glu
ENST00000494912.5:n.1432T>A
ENST00000498029.1:n.201T>A
ENST00000601016.5:c.743T>A	ENSP00000469981.1:p.Val248Glu
ENST00000612460.4:c.653T>A	ENSP00000481037.1:p.Val218Glu
ENST00000613002.4:c.611T>A	ENSP00000478154.1:p.Val204Glu
ENST00000615986.4:c.*471T>A	ENSP00000480133.1:n.*471T>A
NM_000116.4:c.743T>A	NP_000107.1:p.Val248Glu
NM_001303465.1:c.755T>A	NP_001290394.1:p.Val252Glu
NM_181311.3:c.653T>A	NP_851828.1:p.Val218Glu
NM_181312.3:c.701T>A	NP_851829.1:p.Val234Glu
NM_181313.3:c.611T>A	NP_851830.1:p.Val204Glu
NR_024048.2:n.1085T>A
XM_006724836.1:c.797T>A	XP_006724899.1:p.Val266Glu
XM_006724837.1:c.782T>A	XP_006724900.1:p.Val261Glu
XM_006724839.1:c.665T>A	XP_006724902.1:p.Val222Glu
XM_006724841.2:c.536T>A	XP_006724904.1:p.Val179Glu
XM_006724842.2:c.446T>A	XP_006724905.1:p.Val149Glu
XM_011531189.1:c.584T>A	XP_011529491.1:p.Val195Glu
XM_011531190.1:c.536T>A	XP_011529492.1:p.Val179Glu
XM_011531191.1:c.467T>A	XP_011529493.1:p.Val156Glu
XM_011531192.1:c.464T>A	XP_011529494.1:p.Val155Glu
XR_938511.1:n.1091T>A
XM_006724841.4:c.536T>A	XP_006724904.1:p.Val179Glu
XM_006724842.4:c.446T>A	XP_006724905.1:p.Val149Glu
XM_011531191.2:c.467T>A	XP_011529493.1:p.Val156Glu
XM_017029761.1:c.728T>A	XP_016885250.1:p.Val243Glu
XM_017029762.1:c.707T>A	XP_016885251.1:p.Val236Glu
XM_017029763.1:c.530T>A	XP_016885252.1:p.Val177Glu
XM_017029764.1:c.464T>A	XP_016885253.1:p.Val155Glu
XM_017029765.2:c.404T>A	XP_016885254.1:p.Val135Glu
XM_024452431.1:c.701T>A	XP_024308199.1:p.Val234Glu
NM_000116.5:c.743T>A MANE Select	NP_000107.1:p.Val248Glu
NM_001303465.2:c.755T>A	NP_001290394.1:p.Val252Glu
NM_181311.4:c.653T>A	NP_851828.1:p.Val218Glu
NM_181312.4:c.701T>A	NP_851829.1:p.Val234Glu
NM_181313.4:c.611T>A	NP_851830.1:p.Val204Glu
NR_024048.3:n.1064T>A