Canonical Allele Identifier: CA519278182

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1101393
• ClinVar RCV Id: RCV001424338
• dbSNP Id: rs2148214484
• MyVariant Identifiers: chrX:g.153649020G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420681G>A , CM000685.2:g.154420681G>A	GRCh38
NC_000023.10:g.153649020G>A , CM000685.1:g.153649020G>A	GRCh37
NC_000023.9:g.153302214G>A	NCBI36
NG_009634.1:g.14144G>A
NG_009634.2:g.14147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1533G>A
ENST00000698317.1:n.2149G>A
ENST00000698318.1:n.1932G>A
ENST00000698319.1:n.1295G>A
ENST00000698320.1:n.1183G>A
ENST00000470127.2:n.1196G>A
ENST00000475699.6:c.687G>A	ENSP00000419854.3:p.Lys229=
ENST00000483674.3:n.605G>A
ENST00000601016.6:c.723G>A MANE Select	ENSP00000469981.1:p.Lys241=
ENST00000612012.5:c.681G>A	ENSP00000482070.2:p.Lys227=
ENST00000612460.5:c.633G>A	ENSP00000481037.1:p.Lys211=
ENST00000614595.2:n.2070G>A
ENST00000615658.5:n.1312G>A
ENST00000616020.5:c.735G>A	ENSP00000483636.2:p.Lys245=
ENST00000617701.5:c.*736G>A	ENSP00000481645.1:n.*736G>A
ENST00000651139.1:c.-61G>A	ENSP00000498957.1:n.-61G>A
ENST00000652354.1:c.405G>A	ENSP00000498734.1:p.Lys135=
ENST00000652358.1:c.516G>A	ENSP00000498464.1:p.Lys172=
ENST00000652390.1:c.642G>A	ENSP00000498858.1:p.Lys214=
ENST00000652476.1:n.1389G>A
ENST00000652644.1:c.336G>A	ENSP00000498496.1:p.Lys112=
ENST00000652682.1:c.780G>A	ENSP00000498288.1:p.Lys260=
ENST00000652685.1:n.1076G>A
ENST00000369776.8:c.633G>A	ENSP00000358791.4:p.Lys211=
ENST00000426231.5:c.720G>A
ENST00000475699.5:c.681G>A	ENSP00000419854.2:p.Lys227=
ENST00000494912.5:n.1412G>A
ENST00000498029.1:n.181G>A
ENST00000601016.5:c.723G>A	ENSP00000469981.1:p.Lys241=
ENST00000612460.4:c.633G>A	ENSP00000481037.1:p.Lys211=
ENST00000613002.4:c.591G>A	ENSP00000478154.1:p.Lys197=
ENST00000615986.4:c.*451G>A	ENSP00000480133.1:n.*451G>A
NM_000116.4:c.723G>A	NP_000107.1:p.Lys241=
NM_001303465.1:c.735G>A	NP_001290394.1:p.Lys245=
NM_181311.3:c.633G>A	NP_851828.1:p.Lys211=
NM_181312.3:c.681G>A	NP_851829.1:p.Lys227=
NM_181313.3:c.591G>A	NP_851830.1:p.Lys197=
NR_024048.2:n.1065G>A
XM_006724836.1:c.777G>A	XP_006724899.1:p.Lys259=
XM_006724837.1:c.762G>A	XP_006724900.1:p.Lys254=
XM_006724839.1:c.645G>A	XP_006724902.1:p.Lys215=
XM_006724841.2:c.516G>A	XP_006724904.1:p.Lys172=
XM_006724842.2:c.426G>A	XP_006724905.1:p.Lys142=
XM_011531189.1:c.564G>A	XP_011529491.1:p.Lys188=
XM_011531190.1:c.516G>A	XP_011529492.1:p.Lys172=
XM_011531191.1:c.447G>A	XP_011529493.1:p.Lys149=
XM_011531192.1:c.444G>A	XP_011529494.1:p.Lys148=
XR_938511.1:n.1071G>A
XM_006724841.4:c.516G>A	XP_006724904.1:p.Lys172=
XM_006724842.4:c.426G>A	XP_006724905.1:p.Lys142=
XM_011531191.2:c.447G>A	XP_011529493.1:p.Lys149=
XM_017029761.1:c.708G>A	XP_016885250.1:p.Lys236=
XM_017029762.1:c.687G>A	XP_016885251.1:p.Lys229=
XM_017029763.1:c.510G>A	XP_016885252.1:p.Lys170=
XM_017029764.1:c.444G>A	XP_016885253.1:p.Lys148=
XM_017029765.2:c.384G>A	XP_016885254.1:p.Lys128=
XM_024452431.1:c.681G>A	XP_024308199.1:p.Lys227=
NM_000116.5:c.723G>A MANE Select	NP_000107.1:p.Lys241=
NM_001303465.2:c.735G>A	NP_001290394.1:p.Lys245=
NM_181311.4:c.633G>A	NP_851828.1:p.Lys211=
NM_181312.4:c.681G>A	NP_851829.1:p.Lys227=
NM_181313.4:c.591G>A	NP_851830.1:p.Lys197=
NR_024048.3:n.1044G>A