Canonical Allele Identifier: CA415184088

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648377G>C (hg19) ; chrX:g.154420038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420038G>C , CM000685.2:g.154420038G>C	GRCh38
NC_000023.10:g.153648377G>C , CM000685.1:g.153648377G>C	GRCh37
NC_000023.9:g.153301571G>C	NCBI36
NG_009634.1:g.13501G>C
NG_009634.2:g.13504G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1400G>C
ENST00000698317.1:n.2016G>C
ENST00000698318.1:n.1799G>C
ENST00000698319.1:n.1162G>C
ENST00000698320.1:n.1050G>C
ENST00000470127.2:n.1063G>C
ENST00000475699.6:c.554G>C	ENSP00000419854.3:p.Gly185Ala
ENST00000483674.3:n.472G>C
ENST00000601016.6:c.590G>C MANE Select	ENSP00000469981.1:p.Gly197Ala
ENST00000612012.5:c.548G>C	ENSP00000482070.2:p.Gly183Ala
ENST00000612460.5:c.500G>C	ENSP00000481037.1:p.Gly167Ala
ENST00000614595.2:n.1937G>C
ENST00000615658.5:n.1179G>C
ENST00000616020.5:c.602G>C	ENSP00000483636.2:p.Gly201Ala
ENST00000617701.5:c.*603G>C	ENSP00000481645.1:n.*603G>C
ENST00000652354.1:c.272G>C	ENSP00000498734.1:p.Gly91Ala
ENST00000652358.1:c.383G>C	ENSP00000498464.1:p.Gly128Ala
ENST00000652390.1:c.509G>C	ENSP00000498858.1:p.Gly170Ala
ENST00000652476.1:n.1256G>C
ENST00000652644.1:c.203G>C	ENSP00000498496.1:p.Gly68Ala
ENST00000652682.1:c.647G>C	ENSP00000498288.1:p.Gly216Ala
ENST00000652685.1:n.943G>C
ENST00000369776.8:c.383G>C	ENSP00000358791.4:p.Gly128Ala
ENST00000426231.5:c.587G>C
ENST00000439735.2:c.497G>C	ENSP00000398193.1:p.Gly166Ala
ENST00000470127.1:n.169G>C
ENST00000475699.5:c.548G>C	ENSP00000419854.2:p.Gly183Ala
ENST00000494912.5:n.1279G>C
ENST00000498029.1:n.48G>C
ENST00000601016.5:c.590G>C	ENSP00000469981.1:p.Gly197Ala
ENST00000612012.4:c.554G>C	ENSP00000482070.1:p.Gly185Ala
ENST00000612460.4:c.500G>C	ENSP00000481037.1:p.Gly167Ala
ENST00000613002.4:c.458G>C	ENSP00000478154.1:p.Gly153Ala
ENST00000613634.4:n.1105G>C
ENST00000615658.4:n.1279G>C
ENST00000615986.4:c.*318G>C	ENSP00000480133.1:n.*318G>C
ENST00000620808.4:c.*176G>C	ENSP00000479311.1:n.*176G>C
NM_000116.4:c.590G>C	NP_000107.1:p.Gly197Ala
NM_001303465.1:c.602G>C	NP_001290394.1:p.Gly201Ala
NM_181311.3:c.500G>C	NP_851828.1:p.Gly167Ala
NM_181312.3:c.548G>C	NP_851829.1:p.Gly183Ala
NM_181313.3:c.458G>C	NP_851830.1:p.Gly153Ala
NR_024048.2:n.932G>C
XM_006724836.1:c.644G>C	XP_006724899.1:p.Gly215Ala
XM_006724837.1:c.512G>C	XP_006724900.1:p.Gly171Ala
XM_006724839.1:c.512G>C	XP_006724902.1:p.Gly171Ala
XM_006724841.2:c.383G>C	XP_006724904.1:p.Gly128Ala
XM_006724842.2:c.293G>C	XP_006724905.1:p.Gly98Ala
XM_011531189.1:c.431G>C	XP_011529491.1:p.Gly144Ala
XM_011531190.1:c.383G>C	XP_011529492.1:p.Gly128Ala
XM_011531191.1:c.314G>C	XP_011529493.1:p.Gly105Ala
XM_011531192.1:c.311G>C	XP_011529494.1:p.Gly104Ala
XR_938511.1:n.938G>C
XM_006724841.4:c.383G>C	XP_006724904.1:p.Gly128Ala
XM_006724842.4:c.293G>C	XP_006724905.1:p.Gly98Ala
XM_011531191.2:c.314G>C	XP_011529493.1:p.Gly105Ala
XM_017029761.1:c.458G>C	XP_016885250.1:p.Gly153Ala
XM_017029762.1:c.554G>C	XP_016885251.1:p.Gly185Ala
XM_017029763.1:c.377G>C	XP_016885252.1:p.Gly126Ala
XM_017029764.1:c.311G>C	XP_016885253.1:p.Gly104Ala
XM_017029765.2:c.251G>C	XP_016885254.1:p.Gly84Ala
XM_024452431.1:c.431G>C	XP_024308199.1:p.Gly144Ala
NM_000116.5:c.590G>C MANE Select	NP_000107.1:p.Gly197Ala
NM_001303465.2:c.602G>C	NP_001290394.1:p.Gly201Ala
NM_181311.4:c.500G>C	NP_851828.1:p.Gly167Ala
NM_181312.4:c.548G>C	NP_851829.1:p.Gly183Ala
NM_181313.4:c.458G>C	NP_851830.1:p.Gly153Ala
NR_024048.3:n.911G>C