Canonical Allele Identifier: CA519278136

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648570T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420231T>C , CM000685.2:g.154420231T>C	GRCh38
NC_000023.10:g.153648570T>C , CM000685.1:g.153648570T>C	GRCh37
NC_000023.9:g.153301764T>C	NCBI36
NG_009634.1:g.13694T>C
NG_009634.2:g.13697T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1476T>C
ENST00000698317.1:n.2092T>C
ENST00000698318.1:n.1875T>C
ENST00000698319.1:n.1238T>C
ENST00000698320.1:n.1126T>C
ENST00000470127.2:n.1139T>C
ENST00000475699.6:c.630T>C	ENSP00000419854.3:p.Pro210=
ENST00000483674.3:n.548T>C
ENST00000601016.6:c.666T>C MANE Select	ENSP00000469981.1:p.Pro222=
ENST00000612012.5:c.624T>C	ENSP00000482070.2:p.Pro208=
ENST00000612460.5:c.576T>C	ENSP00000481037.1:p.Pro192=
ENST00000614595.2:n.2013T>C
ENST00000615658.5:n.1255T>C
ENST00000616020.5:c.678T>C	ENSP00000483636.2:p.Pro226=
ENST00000617701.5:c.*679T>C	ENSP00000481645.1:n.*679T>C
ENST00000652354.1:c.348T>C	ENSP00000498734.1:p.Pro116=
ENST00000652358.1:c.459T>C	ENSP00000498464.1:p.Pro153=
ENST00000652390.1:c.585T>C	ENSP00000498858.1:p.Pro195=
ENST00000652476.1:n.1332T>C
ENST00000652644.1:c.279T>C	ENSP00000498496.1:p.Pro93=
ENST00000652682.1:c.723T>C	ENSP00000498288.1:p.Pro241=
ENST00000652685.1:n.1019T>C
ENST00000369776.8:c.576T>C	ENSP00000358791.4:p.Pro192=
ENST00000426231.5:c.663T>C
ENST00000475699.5:c.624T>C	ENSP00000419854.2:p.Pro208=
ENST00000494912.5:n.1355T>C
ENST00000498029.1:n.124T>C
ENST00000601016.5:c.666T>C	ENSP00000469981.1:p.Pro222=
ENST00000612460.4:c.576T>C	ENSP00000481037.1:p.Pro192=
ENST00000613002.4:c.534T>C	ENSP00000478154.1:p.Pro178=
ENST00000615986.4:c.*394T>C	ENSP00000480133.1:n.*394T>C
NM_000116.4:c.666T>C	NP_000107.1:p.Pro222=
NM_001303465.1:c.678T>C	NP_001290394.1:p.Pro226=
NM_181311.3:c.576T>C	NP_851828.1:p.Pro192=
NM_181312.3:c.624T>C	NP_851829.1:p.Pro208=
NM_181313.3:c.534T>C	NP_851830.1:p.Pro178=
NR_024048.2:n.1008T>C
XM_006724836.1:c.720T>C	XP_006724899.1:p.Pro240=
XM_006724837.1:c.705T>C	XP_006724900.1:p.Pro235=
XM_006724839.1:c.588T>C	XP_006724902.1:p.Pro196=
XM_006724841.2:c.459T>C	XP_006724904.1:p.Pro153=
XM_006724842.2:c.369T>C	XP_006724905.1:p.Pro123=
XM_011531189.1:c.507T>C	XP_011529491.1:p.Pro169=
XM_011531190.1:c.459T>C	XP_011529492.1:p.Pro153=
XM_011531191.1:c.390T>C	XP_011529493.1:p.Pro130=
XM_011531192.1:c.387T>C	XP_011529494.1:p.Pro129=
XR_938511.1:n.1014T>C
XM_006724841.4:c.459T>C	XP_006724904.1:p.Pro153=
XM_006724842.4:c.369T>C	XP_006724905.1:p.Pro123=
XM_011531191.2:c.390T>C	XP_011529493.1:p.Pro130=
XM_017029761.1:c.651T>C	XP_016885250.1:p.Pro217=
XM_017029762.1:c.630T>C	XP_016885251.1:p.Pro210=
XM_017029763.1:c.453T>C	XP_016885252.1:p.Pro151=
XM_017029764.1:c.387T>C	XP_016885253.1:p.Pro129=
XM_017029765.2:c.327T>C	XP_016885254.1:p.Pro109=
XM_024452431.1:c.624T>C	XP_024308199.1:p.Pro208=
NM_000116.5:c.666T>C MANE Select	NP_000107.1:p.Pro222=
NM_001303465.2:c.678T>C	NP_001290394.1:p.Pro226=
NM_181311.4:c.576T>C	NP_851828.1:p.Pro192=
NM_181312.4:c.624T>C	NP_851829.1:p.Pro208=
NM_181313.4:c.534T>C	NP_851830.1:p.Pro178=
NR_024048.3:n.987T>C