Canonical Allele Identifier: CA519278297

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649059G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420720G>T , CM000685.2:g.154420720G>T	GRCh38
NC_000023.10:g.153649059G>T , CM000685.1:g.153649059G>T	GRCh37
NC_000023.9:g.153302253G>T	NCBI36
NG_009634.1:g.14183G>T
NG_009634.2:g.14186G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1572G>T
ENST00000698317.1:n.2188G>T
ENST00000698318.1:n.1971G>T
ENST00000698319.1:n.1334G>T
ENST00000698320.1:n.1222G>T
ENST00000470127.2:n.1235G>T
ENST00000475699.6:c.726G>T	ENSP00000419854.3:p.Ala242=
ENST00000483674.3:n.644G>T
ENST00000601016.6:c.762G>T MANE Select	ENSP00000469981.1:p.Ala254=
ENST00000612012.5:c.720G>T	ENSP00000482070.2:p.Ala240=
ENST00000612460.5:c.672G>T	ENSP00000481037.1:p.Ala224=
ENST00000614595.2:n.2109G>T
ENST00000615658.5:n.1351G>T
ENST00000616020.5:c.774G>T	ENSP00000483636.2:p.Ala258=
ENST00000617701.5:c.*775G>T	ENSP00000481645.1:n.*775G>T
ENST00000651139.1:c.-22G>T	ENSP00000498957.1:n.-22G>T
ENST00000652354.1:c.444G>T	ENSP00000498734.1:p.Ala148=
ENST00000652358.1:c.555G>T	ENSP00000498464.1:p.Ala185=
ENST00000652390.1:c.681G>T	ENSP00000498858.1:p.Ala227=
ENST00000652476.1:n.1428G>T
ENST00000652644.1:c.375G>T	ENSP00000498496.1:p.Ala125=
ENST00000652682.1:c.819G>T	ENSP00000498288.1:p.Ala273=
ENST00000652685.1:n.1115G>T
ENST00000369776.8:c.672G>T	ENSP00000358791.4:p.Ala224=
ENST00000426231.5:c.759G>T
ENST00000475699.5:c.720G>T	ENSP00000419854.2:p.Ala240=
ENST00000494912.5:n.1451G>T
ENST00000498029.1:n.220G>T
ENST00000601016.5:c.762G>T	ENSP00000469981.1:p.Ala254=
ENST00000612460.4:c.672G>T	ENSP00000481037.1:p.Ala224=
ENST00000613002.4:c.630G>T	ENSP00000478154.1:p.Ala210=
ENST00000615986.4:c.*490G>T	ENSP00000480133.1:n.*490G>T
NM_000116.4:c.762G>T	NP_000107.1:p.Ala254=
NM_001303465.1:c.774G>T	NP_001290394.1:p.Ala258=
NM_181311.3:c.672G>T	NP_851828.1:p.Ala224=
NM_181312.3:c.720G>T	NP_851829.1:p.Ala240=
NM_181313.3:c.630G>T	NP_851830.1:p.Ala210=
NR_024048.2:n.1104G>T
XM_006724836.1:c.816G>T	XP_006724899.1:p.Ala272=
XM_006724837.1:c.801G>T	XP_006724900.1:p.Ala267=
XM_006724839.1:c.684G>T	XP_006724902.1:p.Ala228=
XM_006724841.2:c.555G>T	XP_006724904.1:p.Ala185=
XM_006724842.2:c.465G>T	XP_006724905.1:p.Ala155=
XM_011531189.1:c.603G>T	XP_011529491.1:p.Ala201=
XM_011531190.1:c.555G>T	XP_011529492.1:p.Ala185=
XM_011531191.1:c.486G>T	XP_011529493.1:p.Ala162=
XM_011531192.1:c.483G>T	XP_011529494.1:p.Ala161=
XR_938511.1:n.1110G>T
XM_006724841.4:c.555G>T	XP_006724904.1:p.Ala185=
XM_006724842.4:c.465G>T	XP_006724905.1:p.Ala155=
XM_011531191.2:c.486G>T	XP_011529493.1:p.Ala162=
XM_017029761.1:c.747G>T	XP_016885250.1:p.Ala249=
XM_017029762.1:c.726G>T	XP_016885251.1:p.Ala242=
XM_017029763.1:c.549G>T	XP_016885252.1:p.Ala183=
XM_017029764.1:c.483G>T	XP_016885253.1:p.Ala161=
XM_017029765.2:c.423G>T	XP_016885254.1:p.Ala141=
XM_024452431.1:c.720G>T	XP_024308199.1:p.Ala240=
NM_000116.5:c.762G>T MANE Select	NP_000107.1:p.Ala254=
NM_001303465.2:c.774G>T	NP_001290394.1:p.Ala258=
NM_181311.4:c.672G>T	NP_851828.1:p.Ala224=
NM_181312.4:c.720G>T	NP_851829.1:p.Ala240=
NM_181313.4:c.630G>T	NP_851830.1:p.Ala210=
NR_024048.3:n.1083G>T