Canonical Allele Identifier: CA261286

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 42264
• ClinVar RCV Id: RCV000035097
• dbSNP Id: rs397515746
• MyVariant Identifiers: chrX:g.153648377G>A (hg19) ; chrX:g.154420038G>A (hg38)
• PubMed: PMID:1719174 ; PMID:9345098

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1400G>A
ENST00000698317.1:n.2016G>A
ENST00000698318.1:n.1799G>A
ENST00000698319.1:n.1162G>A
ENST00000698320.1:n.1050G>A
ENST00000470127.2:n.1063G>A
ENST00000475699.6:c.554G>A	ENSP00000419854.3:p.Gly185Glu
ENST00000483674.3:n.472G>A
ENST00000601016.6:c.590G>A MANE Select	ENSP00000469981.1:p.Gly197Glu
ENST00000612012.5:c.548G>A	ENSP00000482070.2:p.Gly183Glu
ENST00000612460.5:c.500G>A	ENSP00000481037.1:p.Gly167Glu
ENST00000614595.2:n.1937G>A
ENST00000615658.5:n.1179G>A
ENST00000616020.5:c.602G>A	ENSP00000483636.2:p.Gly201Glu
ENST00000617701.5:c.*603G>A	ENSP00000481645.1:n.*603G>A
ENST00000652354.1:c.272G>A	ENSP00000498734.1:p.Gly91Glu
ENST00000652358.1:c.383G>A	ENSP00000498464.1:p.Gly128Glu
ENST00000652390.1:c.509G>A	ENSP00000498858.1:p.Gly170Glu
ENST00000652476.1:n.1256G>A
ENST00000652644.1:c.203G>A	ENSP00000498496.1:p.Gly68Glu
ENST00000652682.1:c.647G>A	ENSP00000498288.1:p.Gly216Glu
ENST00000652685.1:n.943G>A
ENST00000369776.8:c.383G>A	ENSP00000358791.4:p.Gly128Glu
ENST00000426231.5:c.587G>A
ENST00000439735.2:c.497G>A	ENSP00000398193.1:p.Gly166Glu
ENST00000470127.1:n.169G>A
ENST00000475699.5:c.548G>A	ENSP00000419854.2:p.Gly183Glu
ENST00000494912.5:n.1279G>A
ENST00000498029.1:n.48G>A
ENST00000601016.5:c.590G>A	ENSP00000469981.1:p.Gly197Glu
ENST00000612012.4:c.554G>A	ENSP00000482070.1:p.Gly185Glu
ENST00000612460.4:c.500G>A	ENSP00000481037.1:p.Gly167Glu
ENST00000613002.4:c.458G>A	ENSP00000478154.1:p.Gly153Glu
ENST00000613634.4:n.1105G>A
ENST00000615658.4:n.1279G>A
ENST00000615986.4:c.*318G>A	ENSP00000480133.1:n.*318G>A
ENST00000620808.4:c.*176G>A	ENSP00000479311.1:n.*176G>A
NM_000116.4:c.590G>A	NP_000107.1:p.Gly197Glu
NM_001303465.1:c.602G>A	NP_001290394.1:p.Gly201Glu
NM_181311.3:c.500G>A	NP_851828.1:p.Gly167Glu
NM_181312.3:c.548G>A	NP_851829.1:p.Gly183Glu
NM_181313.3:c.458G>A	NP_851830.1:p.Gly153Glu
NR_024048.2:n.932G>A
XM_006724836.1:c.644G>A	XP_006724899.1:p.Gly215Glu
XM_006724837.1:c.512G>A	XP_006724900.1:p.Gly171Glu
XM_006724839.1:c.512G>A	XP_006724902.1:p.Gly171Glu
XM_006724841.2:c.383G>A	XP_006724904.1:p.Gly128Glu
XM_006724842.2:c.293G>A	XP_006724905.1:p.Gly98Glu
XM_011531189.1:c.431G>A	XP_011529491.1:p.Gly144Glu
XM_011531190.1:c.383G>A	XP_011529492.1:p.Gly128Glu
XM_011531191.1:c.314G>A	XP_011529493.1:p.Gly105Glu
XM_011531192.1:c.311G>A	XP_011529494.1:p.Gly104Glu
XR_938511.1:n.938G>A
XM_006724841.4:c.383G>A	XP_006724904.1:p.Gly128Glu
XM_006724842.4:c.293G>A	XP_006724905.1:p.Gly98Glu
XM_011531191.2:c.314G>A	XP_011529493.1:p.Gly105Glu
XM_017029761.1:c.458G>A	XP_016885250.1:p.Gly153Glu
XM_017029762.1:c.554G>A	XP_016885251.1:p.Gly185Glu
XM_017029763.1:c.377G>A	XP_016885252.1:p.Gly126Glu
XM_017029764.1:c.311G>A	XP_016885253.1:p.Gly104Glu
XM_017029765.2:c.251G>A	XP_016885254.1:p.Gly84Glu
XM_024452431.1:c.431G>A	XP_024308199.1:p.Gly144Glu
NM_000116.5:c.590G>A MANE Select	NP_000107.1:p.Gly197Glu
NM_001303465.2:c.602G>A	NP_001290394.1:p.Gly201Glu
NM_181311.4:c.500G>A	NP_851828.1:p.Gly167Glu
NM_181312.4:c.548G>A	NP_851829.1:p.Gly183Glu
NM_181313.4:c.458G>A	NP_851830.1:p.Gly153Glu
NR_024048.3:n.911G>A