Canonical Allele Identifier: CA415184165

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648388G>T (hg19) ; chrX:g.154420049G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420049G>T , CM000685.2:g.154420049G>T	GRCh38
NC_000023.10:g.153648388G>T , CM000685.1:g.153648388G>T	GRCh37
NC_000023.9:g.153301582G>T	NCBI36
NG_009634.1:g.13512G>T
NG_009634.2:g.13515G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1411G>T
ENST00000698317.1:n.2027G>T
ENST00000698318.1:n.1810G>T
ENST00000698319.1:n.1173G>T
ENST00000698320.1:n.1061G>T
ENST00000470127.2:n.1074G>T
ENST00000475699.6:c.565G>T	ENSP00000419854.3:p.Ala189Ser
ENST00000483674.3:n.483G>T
ENST00000601016.6:c.601G>T MANE Select	ENSP00000469981.1:p.Ala201Ser
ENST00000612012.5:c.559G>T	ENSP00000482070.2:p.Ala187Ser
ENST00000612460.5:c.511G>T	ENSP00000481037.1:p.Ala171Ser
ENST00000614595.2:n.1948G>T
ENST00000615658.5:n.1190G>T
ENST00000616020.5:c.613G>T	ENSP00000483636.2:p.Ala205Ser
ENST00000617701.5:c.*614G>T	ENSP00000481645.1:n.*614G>T
ENST00000652354.1:c.283G>T	ENSP00000498734.1:p.Ala95Ser
ENST00000652358.1:c.394G>T	ENSP00000498464.1:p.Ala132Ser
ENST00000652390.1:c.520G>T	ENSP00000498858.1:p.Ala174Ser
ENST00000652476.1:n.1267G>T
ENST00000652644.1:c.214G>T	ENSP00000498496.1:p.Ala72Ser
ENST00000652682.1:c.658G>T	ENSP00000498288.1:p.Ala220Ser
ENST00000652685.1:n.954G>T
ENST00000369776.8:c.394G>T	ENSP00000358791.4:p.Ala132Ser
ENST00000426231.5:c.598G>T
ENST00000439735.2:c.508G>T	ENSP00000398193.1:p.Ala170Ser
ENST00000470127.1:n.180G>T
ENST00000475699.5:c.559G>T	ENSP00000419854.2:p.Ala187Ser
ENST00000494912.5:n.1290G>T
ENST00000498029.1:n.59G>T
ENST00000601016.5:c.601G>T	ENSP00000469981.1:p.Ala201Ser
ENST00000612012.4:c.565G>T	ENSP00000482070.1:p.Ala189Ser
ENST00000612460.4:c.511G>T	ENSP00000481037.1:p.Ala171Ser
ENST00000613002.4:c.469G>T	ENSP00000478154.1:p.Ala157Ser
ENST00000615658.4:n.1290G>T
ENST00000615986.4:c.*329G>T	ENSP00000480133.1:n.*329G>T
ENST00000620808.4:c.*187G>T	ENSP00000479311.1:n.*187G>T
NM_000116.4:c.601G>T	NP_000107.1:p.Ala201Ser
NM_001303465.1:c.613G>T	NP_001290394.1:p.Ala205Ser
NM_181311.3:c.511G>T	NP_851828.1:p.Ala171Ser
NM_181312.3:c.559G>T	NP_851829.1:p.Ala187Ser
NM_181313.3:c.469G>T	NP_851830.1:p.Ala157Ser
NR_024048.2:n.943G>T
XM_006724836.1:c.655G>T	XP_006724899.1:p.Ala219Ser
XM_006724837.1:c.523G>T	XP_006724900.1:p.Ala175Ser
XM_006724839.1:c.523G>T	XP_006724902.1:p.Ala175Ser
XM_006724841.2:c.394G>T	XP_006724904.1:p.Ala132Ser
XM_006724842.2:c.304G>T	XP_006724905.1:p.Ala102Ser
XM_011531189.1:c.442G>T	XP_011529491.1:p.Ala148Ser
XM_011531190.1:c.394G>T	XP_011529492.1:p.Ala132Ser
XM_011531191.1:c.325G>T	XP_011529493.1:p.Ala109Ser
XM_011531192.1:c.322G>T	XP_011529494.1:p.Ala108Ser
XR_938511.1:n.949G>T
XM_006724841.4:c.394G>T	XP_006724904.1:p.Ala132Ser
XM_006724842.4:c.304G>T	XP_006724905.1:p.Ala102Ser
XM_011531191.2:c.325G>T	XP_011529493.1:p.Ala109Ser
XM_017029761.1:c.469G>T	XP_016885250.1:p.Ala157Ser
XM_017029762.1:c.565G>T	XP_016885251.1:p.Ala189Ser
XM_017029763.1:c.388G>T	XP_016885252.1:p.Ala130Ser
XM_017029764.1:c.322G>T	XP_016885253.1:p.Ala108Ser
XM_017029765.2:c.262G>T	XP_016885254.1:p.Ala88Ser
XM_024452431.1:c.442G>T	XP_024308199.1:p.Ala148Ser
NM_000116.5:c.601G>T MANE Select	NP_000107.1:p.Ala201Ser
NM_001303465.2:c.613G>T	NP_001290394.1:p.Ala205Ser
NM_181311.4:c.511G>T	NP_851828.1:p.Ala171Ser
NM_181312.4:c.559G>T	NP_851829.1:p.Ala187Ser
NM_181313.4:c.469G>T	NP_851830.1:p.Ala157Ser
NR_024048.3:n.922G>T