Canonical Allele Identifier: CA415185449

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506900
• ClinVar RCV Id: RCV003237269
• MyVariant Identifiers: chrX:g.153649045G>T (hg19) ; chrX:g.154420706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420706G>T , CM000685.2:g.154420706G>T	GRCh38
NC_000023.10:g.153649045G>T , CM000685.1:g.153649045G>T	GRCh37
NC_000023.9:g.153302239G>T	NCBI36
NG_009634.1:g.14169G>T
NG_009634.2:g.14172G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1558G>T
ENST00000698317.1:n.2174G>T
ENST00000698318.1:n.1957G>T
ENST00000698319.1:n.1320G>T
ENST00000698320.1:n.1208G>T
ENST00000470127.2:n.1221G>T
ENST00000475699.6:c.712G>T	ENSP00000419854.3:p.Glu238Ter
ENST00000483674.3:n.630G>T
ENST00000601016.6:c.748G>T MANE Select	ENSP00000469981.1:p.Glu250Ter
ENST00000612012.5:c.706G>T	ENSP00000482070.2:p.Glu236Ter
ENST00000612460.5:c.658G>T	ENSP00000481037.1:p.Glu220Ter
ENST00000614595.2:n.2095G>T
ENST00000615658.5:n.1337G>T
ENST00000616020.5:c.760G>T	ENSP00000483636.2:p.Glu254Ter
ENST00000617701.5:c.*761G>T	ENSP00000481645.1:n.*761G>T
ENST00000651139.1:c.-36G>T	ENSP00000498957.1:n.-36G>T
ENST00000652354.1:c.430G>T	ENSP00000498734.1:p.Glu144Ter
ENST00000652358.1:c.541G>T	ENSP00000498464.1:p.Glu181Ter
ENST00000652390.1:c.667G>T	ENSP00000498858.1:p.Glu223Ter
ENST00000652476.1:n.1414G>T
ENST00000652644.1:c.361G>T	ENSP00000498496.1:p.Glu121Ter
ENST00000652682.1:c.805G>T	ENSP00000498288.1:p.Glu269Ter
ENST00000652685.1:n.1101G>T
ENST00000369776.8:c.658G>T	ENSP00000358791.4:p.Glu220Ter
ENST00000426231.5:c.745G>T
ENST00000475699.5:c.706G>T	ENSP00000419854.2:p.Glu236Ter
ENST00000494912.5:n.1437G>T
ENST00000498029.1:n.206G>T
ENST00000601016.5:c.748G>T	ENSP00000469981.1:p.Glu250Ter
ENST00000612460.4:c.658G>T	ENSP00000481037.1:p.Glu220Ter
ENST00000613002.4:c.616G>T	ENSP00000478154.1:p.Glu206Ter
ENST00000615986.4:c.*476G>T	ENSP00000480133.1:n.*476G>T
NM_000116.4:c.748G>T	NP_000107.1:p.Glu250Ter
NM_001303465.1:c.760G>T	NP_001290394.1:p.Glu254Ter
NM_181311.3:c.658G>T	NP_851828.1:p.Glu220Ter
NM_181312.3:c.706G>T	NP_851829.1:p.Glu236Ter
NM_181313.3:c.616G>T	NP_851830.1:p.Glu206Ter
NR_024048.2:n.1090G>T
XM_006724836.1:c.802G>T	XP_006724899.1:p.Glu268Ter
XM_006724837.1:c.787G>T	XP_006724900.1:p.Glu263Ter
XM_006724839.1:c.670G>T	XP_006724902.1:p.Glu224Ter
XM_006724841.2:c.541G>T	XP_006724904.1:p.Glu181Ter
XM_006724842.2:c.451G>T	XP_006724905.1:p.Glu151Ter
XM_011531189.1:c.589G>T	XP_011529491.1:p.Glu197Ter
XM_011531190.1:c.541G>T	XP_011529492.1:p.Glu181Ter
XM_011531191.1:c.472G>T	XP_011529493.1:p.Glu158Ter
XM_011531192.1:c.469G>T	XP_011529494.1:p.Glu157Ter
XR_938511.1:n.1096G>T
XM_006724841.4:c.541G>T	XP_006724904.1:p.Glu181Ter
XM_006724842.4:c.451G>T	XP_006724905.1:p.Glu151Ter
XM_011531191.2:c.472G>T	XP_011529493.1:p.Glu158Ter
XM_017029761.1:c.733G>T	XP_016885250.1:p.Glu245Ter
XM_017029762.1:c.712G>T	XP_016885251.1:p.Glu238Ter
XM_017029763.1:c.535G>T	XP_016885252.1:p.Glu179Ter
XM_017029764.1:c.469G>T	XP_016885253.1:p.Glu157Ter
XM_017029765.2:c.409G>T	XP_016885254.1:p.Glu137Ter
XM_024452431.1:c.706G>T	XP_024308199.1:p.Glu236Ter
NM_000116.5:c.748G>T MANE Select	NP_000107.1:p.Glu250Ter
NM_001303465.2:c.760G>T	NP_001290394.1:p.Glu254Ter
NM_181311.4:c.658G>T	NP_851828.1:p.Glu220Ter
NM_181312.4:c.706G>T	NP_851829.1:p.Glu236Ter
NM_181313.4:c.616G>T	NP_851830.1:p.Glu206Ter
NR_024048.3:n.1069G>T