Canonical Allele Identifier: CA415185273

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648602A>C (hg19) ; chrX:g.154420263A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420263A>C , CM000685.2:g.154420263A>C	GRCh38
NC_000023.10:g.153648602A>C , CM000685.1:g.153648602A>C	GRCh37
NC_000023.9:g.153301796A>C	NCBI36
NG_009634.1:g.13726A>C
NG_009634.2:g.13729A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1508A>C
ENST00000698317.1:n.2124A>C
ENST00000698318.1:n.1907A>C
ENST00000698319.1:n.1270A>C
ENST00000698320.1:n.1158A>C
ENST00000470127.2:n.1171A>C
ENST00000475699.6:c.662A>C	ENSP00000419854.3:p.Gln221Pro
ENST00000483674.3:n.580A>C
ENST00000601016.6:c.698A>C MANE Select	ENSP00000469981.1:p.Gln233Pro
ENST00000612012.5:c.656A>C	ENSP00000482070.2:p.Gln219Pro
ENST00000612460.5:c.608A>C	ENSP00000481037.1:p.Gln203Pro
ENST00000614595.2:n.2045A>C
ENST00000615658.5:n.1287A>C
ENST00000616020.5:c.710A>C	ENSP00000483636.2:p.Gln237Pro
ENST00000617701.5:c.*711A>C	ENSP00000481645.1:n.*711A>C
ENST00000652354.1:c.380A>C	ENSP00000498734.1:p.Gln127Pro
ENST00000652358.1:c.491A>C	ENSP00000498464.1:p.Gln164Pro
ENST00000652390.1:c.617A>C	ENSP00000498858.1:p.Gln206Pro
ENST00000652476.1:n.1364A>C
ENST00000652644.1:c.311A>C	ENSP00000498496.1:p.Gln104Pro
ENST00000652682.1:c.755A>C	ENSP00000498288.1:p.Gln252Pro
ENST00000652685.1:n.1051A>C
ENST00000369776.8:c.608A>C	ENSP00000358791.4:p.Gln203Pro
ENST00000426231.5:c.695A>C
ENST00000475699.5:c.656A>C	ENSP00000419854.2:p.Gln219Pro
ENST00000494912.5:n.1387A>C
ENST00000498029.1:n.156A>C
ENST00000601016.5:c.698A>C	ENSP00000469981.1:p.Gln233Pro
ENST00000612460.4:c.608A>C	ENSP00000481037.1:p.Gln203Pro
ENST00000613002.4:c.566A>C	ENSP00000478154.1:p.Gln189Pro
ENST00000615986.4:c.*426A>C	ENSP00000480133.1:n.*426A>C
NM_000116.4:c.698A>C	NP_000107.1:p.Gln233Pro
NM_001303465.1:c.710A>C	NP_001290394.1:p.Gln237Pro
NM_181311.3:c.608A>C	NP_851828.1:p.Gln203Pro
NM_181312.3:c.656A>C	NP_851829.1:p.Gln219Pro
NM_181313.3:c.566A>C	NP_851830.1:p.Gln189Pro
NR_024048.2:n.1040A>C
XM_006724836.1:c.752A>C	XP_006724899.1:p.Gln251Pro
XM_006724837.1:c.737A>C	XP_006724900.1:p.Gln246Pro
XM_006724839.1:c.620A>C	XP_006724902.1:p.Gln207Pro
XM_006724841.2:c.491A>C	XP_006724904.1:p.Gln164Pro
XM_006724842.2:c.401A>C	XP_006724905.1:p.Gln134Pro
XM_011531189.1:c.539A>C	XP_011529491.1:p.Gln180Pro
XM_011531190.1:c.491A>C	XP_011529492.1:p.Gln164Pro
XM_011531191.1:c.422A>C	XP_011529493.1:p.Gln141Pro
XM_011531192.1:c.419A>C	XP_011529494.1:p.Gln140Pro
XR_938511.1:n.1046A>C
XM_006724841.4:c.491A>C	XP_006724904.1:p.Gln164Pro
XM_006724842.4:c.401A>C	XP_006724905.1:p.Gln134Pro
XM_011531191.2:c.422A>C	XP_011529493.1:p.Gln141Pro
XM_017029761.1:c.683A>C	XP_016885250.1:p.Gln228Pro
XM_017029762.1:c.662A>C	XP_016885251.1:p.Gln221Pro
XM_017029763.1:c.485A>C	XP_016885252.1:p.Gln162Pro
XM_017029764.1:c.419A>C	XP_016885253.1:p.Gln140Pro
XM_017029765.2:c.359A>C	XP_016885254.1:p.Gln120Pro
XM_024452431.1:c.656A>C	XP_024308199.1:p.Gln219Pro
NM_000116.5:c.698A>C MANE Select	NP_000107.1:p.Gln233Pro
NM_001303465.2:c.710A>C	NP_001290394.1:p.Gln237Pro
NM_181311.4:c.608A>C	NP_851828.1:p.Gln203Pro
NM_181312.4:c.656A>C	NP_851829.1:p.Gln219Pro
NM_181313.4:c.566A>C	NP_851830.1:p.Gln189Pro
NR_024048.3:n.1019A>C