Canonical Allele Identifier: CA415185279

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648603G>T (hg19) ; chrX:g.154420264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420264G>T , CM000685.2:g.154420264G>T	GRCh38
NC_000023.10:g.153648603G>T , CM000685.1:g.153648603G>T	GRCh37
NC_000023.9:g.153301797G>T	NCBI36
NG_009634.1:g.13727G>T
NG_009634.2:g.13730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1509G>T
ENST00000698317.1:n.2125G>T
ENST00000698318.1:n.1908G>T
ENST00000698319.1:n.1271G>T
ENST00000698320.1:n.1159G>T
ENST00000470127.2:n.1172G>T
ENST00000475699.6:c.663G>T	ENSP00000419854.3:p.Gln221His
ENST00000483674.3:n.581G>T
ENST00000601016.6:c.699G>T MANE Select	ENSP00000469981.1:p.Gln233His
ENST00000612012.5:c.657G>T	ENSP00000482070.2:p.Gln219His
ENST00000612460.5:c.609G>T	ENSP00000481037.1:p.Gln203His
ENST00000614595.2:n.2046G>T
ENST00000615658.5:n.1288G>T
ENST00000616020.5:c.711G>T	ENSP00000483636.2:p.Gln237His
ENST00000617701.5:c.*712G>T	ENSP00000481645.1:n.*712G>T
ENST00000652354.1:c.381G>T	ENSP00000498734.1:p.Gln127His
ENST00000652358.1:c.492G>T	ENSP00000498464.1:p.Gln164His
ENST00000652390.1:c.618G>T	ENSP00000498858.1:p.Gln206His
ENST00000652476.1:n.1365G>T
ENST00000652644.1:c.312G>T	ENSP00000498496.1:p.Gln104His
ENST00000652682.1:c.756G>T	ENSP00000498288.1:p.Gln252His
ENST00000652685.1:n.1052G>T
ENST00000369776.8:c.609G>T	ENSP00000358791.4:p.Gln203His
ENST00000426231.5:c.696G>T
ENST00000475699.5:c.657G>T	ENSP00000419854.2:p.Gln219His
ENST00000494912.5:n.1388G>T
ENST00000498029.1:n.157G>T
ENST00000601016.5:c.699G>T	ENSP00000469981.1:p.Gln233His
ENST00000612460.4:c.609G>T	ENSP00000481037.1:p.Gln203His
ENST00000613002.4:c.567G>T	ENSP00000478154.1:p.Gln189His
ENST00000615986.4:c.*427G>T	ENSP00000480133.1:n.*427G>T
NM_000116.4:c.699G>T	NP_000107.1:p.Gln233His
NM_001303465.1:c.711G>T	NP_001290394.1:p.Gln237His
NM_181311.3:c.609G>T	NP_851828.1:p.Gln203His
NM_181312.3:c.657G>T	NP_851829.1:p.Gln219His
NM_181313.3:c.567G>T	NP_851830.1:p.Gln189His
NR_024048.2:n.1041G>T
XM_006724836.1:c.753G>T	XP_006724899.1:p.Gln251His
XM_006724837.1:c.738G>T	XP_006724900.1:p.Gln246His
XM_006724839.1:c.621G>T	XP_006724902.1:p.Gln207His
XM_006724841.2:c.492G>T	XP_006724904.1:p.Gln164His
XM_006724842.2:c.402G>T	XP_006724905.1:p.Gln134His
XM_011531189.1:c.540G>T	XP_011529491.1:p.Gln180His
XM_011531190.1:c.492G>T	XP_011529492.1:p.Gln164His
XM_011531191.1:c.423G>T	XP_011529493.1:p.Gln141His
XM_011531192.1:c.420G>T	XP_011529494.1:p.Gln140His
XR_938511.1:n.1047G>T
XM_006724841.4:c.492G>T	XP_006724904.1:p.Gln164His
XM_006724842.4:c.402G>T	XP_006724905.1:p.Gln134His
XM_011531191.2:c.423G>T	XP_011529493.1:p.Gln141His
XM_017029761.1:c.684G>T	XP_016885250.1:p.Gln228His
XM_017029762.1:c.663G>T	XP_016885251.1:p.Gln221His
XM_017029763.1:c.486G>T	XP_016885252.1:p.Gln162His
XM_017029764.1:c.420G>T	XP_016885253.1:p.Gln140His
XM_017029765.2:c.360G>T	XP_016885254.1:p.Gln120His
XM_024452431.1:c.657G>T	XP_024308199.1:p.Gln219His
NM_000116.5:c.699G>T MANE Select	NP_000107.1:p.Gln233His
NM_001303465.2:c.711G>T	NP_001290394.1:p.Gln237His
NM_181311.4:c.609G>T	NP_851828.1:p.Gln203His
NM_181312.4:c.657G>T	NP_851829.1:p.Gln219His
NM_181313.4:c.567G>T	NP_851830.1:p.Gln189His
NR_024048.3:n.1020G>T