Canonical Allele Identifier: CA415185387

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1532A>T
ENST00000698317.1:n.2148A>T
ENST00000698318.1:n.1931A>T
ENST00000698319.1:n.1294A>T
ENST00000698320.1:n.1182A>T
ENST00000470127.2:n.1195A>T
ENST00000475699.6:c.686A>T	ENSP00000419854.3:p.Lys229Met
ENST00000483674.3:n.604A>T
ENST00000601016.6:c.722A>T MANE Select	ENSP00000469981.1:p.Lys241Met
ENST00000612012.5:c.680A>T	ENSP00000482070.2:p.Lys227Met
ENST00000612460.5:c.632A>T	ENSP00000481037.1:p.Lys211Met
ENST00000614595.2:n.2069A>T
ENST00000615658.5:n.1311A>T
ENST00000616020.5:c.734A>T	ENSP00000483636.2:p.Lys245Met
ENST00000617701.5:c.*735A>T	ENSP00000481645.1:n.*735A>T
ENST00000651139.1:c.-62A>T	ENSP00000498957.1:n.-62A>T
ENST00000652354.1:c.404A>T	ENSP00000498734.1:p.Lys135Met
ENST00000652358.1:c.515A>T	ENSP00000498464.1:p.Lys172Met
ENST00000652390.1:c.641A>T	ENSP00000498858.1:p.Lys214Met
ENST00000652476.1:n.1388A>T
ENST00000652644.1:c.335A>T	ENSP00000498496.1:p.Lys112Met
ENST00000652682.1:c.779A>T	ENSP00000498288.1:p.Lys260Met
ENST00000652685.1:n.1075A>T
ENST00000369776.8:c.632A>T	ENSP00000358791.4:p.Lys211Met
ENST00000426231.5:c.719A>T
ENST00000475699.5:c.680A>T	ENSP00000419854.2:p.Lys227Met
ENST00000494912.5:n.1411A>T
ENST00000498029.1:n.180A>T
ENST00000601016.5:c.722A>T	ENSP00000469981.1:p.Lys241Met
ENST00000612460.4:c.632A>T	ENSP00000481037.1:p.Lys211Met
ENST00000613002.4:c.590A>T	ENSP00000478154.1:p.Lys197Met
ENST00000615986.4:c.*450A>T	ENSP00000480133.1:n.*450A>T
NM_000116.4:c.722A>T	NP_000107.1:p.Lys241Met
NM_001303465.1:c.734A>T	NP_001290394.1:p.Lys245Met
NM_181311.3:c.632A>T	NP_851828.1:p.Lys211Met
NM_181312.3:c.680A>T	NP_851829.1:p.Lys227Met
NM_181313.3:c.590A>T	NP_851830.1:p.Lys197Met
NR_024048.2:n.1064A>T
XM_006724836.1:c.776A>T	XP_006724899.1:p.Lys259Met
XM_006724837.1:c.761A>T	XP_006724900.1:p.Lys254Met
XM_006724839.1:c.644A>T	XP_006724902.1:p.Lys215Met
XM_006724841.2:c.515A>T	XP_006724904.1:p.Lys172Met
XM_006724842.2:c.425A>T	XP_006724905.1:p.Lys142Met
XM_011531189.1:c.563A>T	XP_011529491.1:p.Lys188Met
XM_011531190.1:c.515A>T	XP_011529492.1:p.Lys172Met
XM_011531191.1:c.446A>T	XP_011529493.1:p.Lys149Met
XM_011531192.1:c.443A>T	XP_011529494.1:p.Lys148Met
XR_938511.1:n.1070A>T
XM_006724841.4:c.515A>T	XP_006724904.1:p.Lys172Met
XM_006724842.4:c.425A>T	XP_006724905.1:p.Lys142Met
XM_011531191.2:c.446A>T	XP_011529493.1:p.Lys149Met
XM_017029761.1:c.707A>T	XP_016885250.1:p.Lys236Met
XM_017029762.1:c.686A>T	XP_016885251.1:p.Lys229Met
XM_017029763.1:c.509A>T	XP_016885252.1:p.Lys170Met
XM_017029764.1:c.443A>T	XP_016885253.1:p.Lys148Met
XM_017029765.2:c.383A>T	XP_016885254.1:p.Lys128Met
XM_024452431.1:c.680A>T	XP_024308199.1:p.Lys227Met
NM_000116.5:c.722A>T MANE Select	NP_000107.1:p.Lys241Met
NM_001303465.2:c.734A>T	NP_001290394.1:p.Lys245Met
NM_181311.4:c.632A>T	NP_851828.1:p.Lys211Met
NM_181312.4:c.680A>T	NP_851829.1:p.Lys227Met
NM_181313.4:c.590A>T	NP_851830.1:p.Lys197Met
NR_024048.3:n.1043A>T