Canonical Allele Identifier: CA415185385

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649019A>C (hg19) ; chrX:g.154420680A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420680A>C , CM000685.2:g.154420680A>C	GRCh38
NC_000023.10:g.153649019A>C , CM000685.1:g.153649019A>C	GRCh37
NC_000023.9:g.153302213A>C	NCBI36
NG_009634.1:g.14143A>C
NG_009634.2:g.14146A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1532A>C
ENST00000698317.1:n.2148A>C
ENST00000698318.1:n.1931A>C
ENST00000698319.1:n.1294A>C
ENST00000698320.1:n.1182A>C
ENST00000470127.2:n.1195A>C
ENST00000475699.6:c.686A>C	ENSP00000419854.3:p.Lys229Thr
ENST00000483674.3:n.604A>C
ENST00000601016.6:c.722A>C MANE Select	ENSP00000469981.1:p.Lys241Thr
ENST00000612012.5:c.680A>C	ENSP00000482070.2:p.Lys227Thr
ENST00000612460.5:c.632A>C	ENSP00000481037.1:p.Lys211Thr
ENST00000614595.2:n.2069A>C
ENST00000615658.5:n.1311A>C
ENST00000616020.5:c.734A>C	ENSP00000483636.2:p.Lys245Thr
ENST00000617701.5:c.*735A>C	ENSP00000481645.1:n.*735A>C
ENST00000651139.1:c.-62A>C	ENSP00000498957.1:n.-62A>C
ENST00000652354.1:c.404A>C	ENSP00000498734.1:p.Lys135Thr
ENST00000652358.1:c.515A>C	ENSP00000498464.1:p.Lys172Thr
ENST00000652390.1:c.641A>C	ENSP00000498858.1:p.Lys214Thr
ENST00000652476.1:n.1388A>C
ENST00000652644.1:c.335A>C	ENSP00000498496.1:p.Lys112Thr
ENST00000652682.1:c.779A>C	ENSP00000498288.1:p.Lys260Thr
ENST00000652685.1:n.1075A>C
ENST00000369776.8:c.632A>C	ENSP00000358791.4:p.Lys211Thr
ENST00000426231.5:c.719A>C
ENST00000475699.5:c.680A>C	ENSP00000419854.2:p.Lys227Thr
ENST00000494912.5:n.1411A>C
ENST00000498029.1:n.180A>C
ENST00000601016.5:c.722A>C	ENSP00000469981.1:p.Lys241Thr
ENST00000612460.4:c.632A>C	ENSP00000481037.1:p.Lys211Thr
ENST00000613002.4:c.590A>C	ENSP00000478154.1:p.Lys197Thr
ENST00000615986.4:c.*450A>C	ENSP00000480133.1:n.*450A>C
NM_000116.4:c.722A>C	NP_000107.1:p.Lys241Thr
NM_001303465.1:c.734A>C	NP_001290394.1:p.Lys245Thr
NM_181311.3:c.632A>C	NP_851828.1:p.Lys211Thr
NM_181312.3:c.680A>C	NP_851829.1:p.Lys227Thr
NM_181313.3:c.590A>C	NP_851830.1:p.Lys197Thr
NR_024048.2:n.1064A>C
XM_006724836.1:c.776A>C	XP_006724899.1:p.Lys259Thr
XM_006724837.1:c.761A>C	XP_006724900.1:p.Lys254Thr
XM_006724839.1:c.644A>C	XP_006724902.1:p.Lys215Thr
XM_006724841.2:c.515A>C	XP_006724904.1:p.Lys172Thr
XM_006724842.2:c.425A>C	XP_006724905.1:p.Lys142Thr
XM_011531189.1:c.563A>C	XP_011529491.1:p.Lys188Thr
XM_011531190.1:c.515A>C	XP_011529492.1:p.Lys172Thr
XM_011531191.1:c.446A>C	XP_011529493.1:p.Lys149Thr
XM_011531192.1:c.443A>C	XP_011529494.1:p.Lys148Thr
XR_938511.1:n.1070A>C
XM_006724841.4:c.515A>C	XP_006724904.1:p.Lys172Thr
XM_006724842.4:c.425A>C	XP_006724905.1:p.Lys142Thr
XM_011531191.2:c.446A>C	XP_011529493.1:p.Lys149Thr
XM_017029761.1:c.707A>C	XP_016885250.1:p.Lys236Thr
XM_017029762.1:c.686A>C	XP_016885251.1:p.Lys229Thr
XM_017029763.1:c.509A>C	XP_016885252.1:p.Lys170Thr
XM_017029764.1:c.443A>C	XP_016885253.1:p.Lys148Thr
XM_017029765.2:c.383A>C	XP_016885254.1:p.Lys128Thr
XM_024452431.1:c.680A>C	XP_024308199.1:p.Lys227Thr
NM_000116.5:c.722A>C MANE Select	NP_000107.1:p.Lys241Thr
NM_001303465.2:c.734A>C	NP_001290394.1:p.Lys245Thr
NM_181311.4:c.632A>C	NP_851828.1:p.Lys211Thr
NM_181312.4:c.680A>C	NP_851829.1:p.Lys227Thr
NM_181313.4:c.590A>C	NP_851830.1:p.Lys197Thr
NR_024048.3:n.1043A>C