Canonical Allele Identifier: CA415185389

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649020G>T (hg19) ; chrX:g.154420681G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1533G>T
ENST00000698317.1:n.2149G>T
ENST00000698318.1:n.1932G>T
ENST00000698319.1:n.1295G>T
ENST00000698320.1:n.1183G>T
ENST00000470127.2:n.1196G>T
ENST00000475699.6:c.687G>T	ENSP00000419854.3:p.Lys229Asn
ENST00000483674.3:n.605G>T
ENST00000601016.6:c.723G>T MANE Select	ENSP00000469981.1:p.Lys241Asn
ENST00000612012.5:c.681G>T	ENSP00000482070.2:p.Lys227Asn
ENST00000612460.5:c.633G>T	ENSP00000481037.1:p.Lys211Asn
ENST00000614595.2:n.2070G>T
ENST00000615658.5:n.1312G>T
ENST00000616020.5:c.735G>T	ENSP00000483636.2:p.Lys245Asn
ENST00000617701.5:c.*736G>T	ENSP00000481645.1:n.*736G>T
ENST00000651139.1:c.-61G>T	ENSP00000498957.1:n.-61G>T
ENST00000652354.1:c.405G>T	ENSP00000498734.1:p.Lys135Asn
ENST00000652358.1:c.516G>T	ENSP00000498464.1:p.Lys172Asn
ENST00000652390.1:c.642G>T	ENSP00000498858.1:p.Lys214Asn
ENST00000652476.1:n.1389G>T
ENST00000652644.1:c.336G>T	ENSP00000498496.1:p.Lys112Asn
ENST00000652682.1:c.780G>T	ENSP00000498288.1:p.Lys260Asn
ENST00000652685.1:n.1076G>T
ENST00000369776.8:c.633G>T	ENSP00000358791.4:p.Lys211Asn
ENST00000426231.5:c.720G>T
ENST00000475699.5:c.681G>T	ENSP00000419854.2:p.Lys227Asn
ENST00000494912.5:n.1412G>T
ENST00000498029.1:n.181G>T
ENST00000601016.5:c.723G>T	ENSP00000469981.1:p.Lys241Asn
ENST00000612460.4:c.633G>T	ENSP00000481037.1:p.Lys211Asn
ENST00000613002.4:c.591G>T	ENSP00000478154.1:p.Lys197Asn
ENST00000615986.4:c.*451G>T	ENSP00000480133.1:n.*451G>T
NM_000116.4:c.723G>T	NP_000107.1:p.Lys241Asn
NM_001303465.1:c.735G>T	NP_001290394.1:p.Lys245Asn
NM_181311.3:c.633G>T	NP_851828.1:p.Lys211Asn
NM_181312.3:c.681G>T	NP_851829.1:p.Lys227Asn
NM_181313.3:c.591G>T	NP_851830.1:p.Lys197Asn
NR_024048.2:n.1065G>T
XM_006724836.1:c.777G>T	XP_006724899.1:p.Lys259Asn
XM_006724837.1:c.762G>T	XP_006724900.1:p.Lys254Asn
XM_006724839.1:c.645G>T	XP_006724902.1:p.Lys215Asn
XM_006724841.2:c.516G>T	XP_006724904.1:p.Lys172Asn
XM_006724842.2:c.426G>T	XP_006724905.1:p.Lys142Asn
XM_011531189.1:c.564G>T	XP_011529491.1:p.Lys188Asn
XM_011531190.1:c.516G>T	XP_011529492.1:p.Lys172Asn
XM_011531191.1:c.447G>T	XP_011529493.1:p.Lys149Asn
XM_011531192.1:c.444G>T	XP_011529494.1:p.Lys148Asn
XR_938511.1:n.1071G>T
XM_006724841.4:c.516G>T	XP_006724904.1:p.Lys172Asn
XM_006724842.4:c.426G>T	XP_006724905.1:p.Lys142Asn
XM_011531191.2:c.447G>T	XP_011529493.1:p.Lys149Asn
XM_017029761.1:c.708G>T	XP_016885250.1:p.Lys236Asn
XM_017029762.1:c.687G>T	XP_016885251.1:p.Lys229Asn
XM_017029763.1:c.510G>T	XP_016885252.1:p.Lys170Asn
XM_017029764.1:c.444G>T	XP_016885253.1:p.Lys148Asn
XM_017029765.2:c.384G>T	XP_016885254.1:p.Lys128Asn
XM_024452431.1:c.681G>T	XP_024308199.1:p.Lys227Asn
NM_000116.5:c.723G>T MANE Select	NP_000107.1:p.Lys241Asn
NM_001303465.2:c.735G>T	NP_001290394.1:p.Lys245Asn
NM_181311.4:c.633G>T	NP_851828.1:p.Lys211Asn
NM_181312.4:c.681G>T	NP_851829.1:p.Lys227Asn
NM_181313.4:c.591G>T	NP_851830.1:p.Lys197Asn
NR_024048.3:n.1044G>T