Canonical Allele Identifier: CA415185516

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649067A>T (hg19) ; chrX:g.154420728A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420728A>T , CM000685.2:g.154420728A>T	GRCh38
NC_000023.10:g.153649067A>T , CM000685.1:g.153649067A>T	GRCh37
NC_000023.9:g.153302261A>T	NCBI36
NG_009634.1:g.14191A>T
NG_009634.2:g.14194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1580A>T
ENST00000698317.1:n.2196A>T
ENST00000698318.1:n.1979A>T
ENST00000698319.1:n.1342A>T
ENST00000698320.1:n.1230A>T
ENST00000470127.2:n.1243A>T
ENST00000475699.6:c.734A>T	ENSP00000419854.3:p.Lys245Met
ENST00000483674.3:n.652A>T
ENST00000601016.6:c.770A>T MANE Select	ENSP00000469981.1:p.Lys257Met
ENST00000612012.5:c.728A>T	ENSP00000482070.2:p.Lys243Met
ENST00000612460.5:c.680A>T	ENSP00000481037.1:p.Lys227Met
ENST00000614595.2:n.2117A>T
ENST00000615658.5:n.1359A>T
ENST00000616020.5:c.782A>T	ENSP00000483636.2:p.Lys261Met
ENST00000617701.5:c.*783A>T	ENSP00000481645.1:n.*783A>T
ENST00000651139.1:c.-14A>T	ENSP00000498957.1:n.-14A>T
ENST00000652354.1:c.452A>T	ENSP00000498734.1:p.Lys151Met
ENST00000652358.1:c.563A>T	ENSP00000498464.1:p.Lys188Met
ENST00000652390.1:c.689A>T	ENSP00000498858.1:p.Lys230Met
ENST00000652476.1:n.1436A>T
ENST00000652644.1:c.383A>T	ENSP00000498496.1:p.Lys128Met
ENST00000652682.1:c.827A>T	ENSP00000498288.1:p.Lys276Met
ENST00000652685.1:n.1123A>T
ENST00000369776.8:c.680A>T	ENSP00000358791.4:p.Lys227Met
ENST00000426231.5:c.767A>T
ENST00000475699.5:c.728A>T	ENSP00000419854.2:p.Lys243Met
ENST00000494912.5:n.1459A>T
ENST00000498029.1:n.228A>T
ENST00000601016.5:c.770A>T	ENSP00000469981.1:p.Lys257Met
ENST00000612460.4:c.680A>T	ENSP00000481037.1:p.Lys227Met
ENST00000613002.4:c.638A>T	ENSP00000478154.1:p.Lys213Met
ENST00000615986.4:c.*498A>T	ENSP00000480133.1:n.*498A>T
NM_000116.4:c.770A>T	NP_000107.1:p.Lys257Met
NM_001303465.1:c.782A>T	NP_001290394.1:p.Lys261Met
NM_181311.3:c.680A>T	NP_851828.1:p.Lys227Met
NM_181312.3:c.728A>T	NP_851829.1:p.Lys243Met
NM_181313.3:c.638A>T	NP_851830.1:p.Lys213Met
NR_024048.2:n.1112A>T
XM_006724836.1:c.824A>T	XP_006724899.1:p.Lys275Met
XM_006724837.1:c.809A>T	XP_006724900.1:p.Lys270Met
XM_006724839.1:c.692A>T	XP_006724902.1:p.Lys231Met
XM_006724841.2:c.563A>T	XP_006724904.1:p.Lys188Met
XM_006724842.2:c.473A>T	XP_006724905.1:p.Lys158Met
XM_011531189.1:c.611A>T	XP_011529491.1:p.Lys204Met
XM_011531190.1:c.563A>T	XP_011529492.1:p.Lys188Met
XM_011531191.1:c.494A>T	XP_011529493.1:p.Lys165Met
XM_011531192.1:c.491A>T	XP_011529494.1:p.Lys164Met
XR_938511.1:n.1118A>T
XM_006724841.4:c.563A>T	XP_006724904.1:p.Lys188Met
XM_006724842.4:c.473A>T	XP_006724905.1:p.Lys158Met
XM_011531191.2:c.494A>T	XP_011529493.1:p.Lys165Met
XM_017029761.1:c.755A>T	XP_016885250.1:p.Lys252Met
XM_017029762.1:c.734A>T	XP_016885251.1:p.Lys245Met
XM_017029763.1:c.557A>T	XP_016885252.1:p.Lys186Met
XM_017029764.1:c.491A>T	XP_016885253.1:p.Lys164Met
XM_017029765.2:c.431A>T	XP_016885254.1:p.Lys144Met
XM_024452431.1:c.728A>T	XP_024308199.1:p.Lys243Met
NM_000116.5:c.770A>T MANE Select	NP_000107.1:p.Lys257Met
NM_001303465.2:c.782A>T	NP_001290394.1:p.Lys261Met
NM_181311.4:c.680A>T	NP_851828.1:p.Lys227Met
NM_181312.4:c.728A>T	NP_851829.1:p.Lys243Met
NM_181313.4:c.638A>T	NP_851830.1:p.Lys213Met
NR_024048.3:n.1091A>T