Canonical Allele Identifier: CA519278177

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649011G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420672G>T , CM000685.2:g.154420672G>T	GRCh38
NC_000023.10:g.153649011G>T , CM000685.1:g.153649011G>T	GRCh37
NC_000023.9:g.153302205G>T	NCBI36
NG_009634.1:g.14135G>T
NG_009634.2:g.14138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1524G>T
ENST00000698317.1:n.2140G>T
ENST00000698318.1:n.1923G>T
ENST00000698319.1:n.1286G>T
ENST00000698320.1:n.1174G>T
ENST00000470127.2:n.1187G>T
ENST00000475699.6:c.678G>T	ENSP00000419854.3:p.Leu226=
ENST00000483674.3:n.596G>T
ENST00000601016.6:c.714G>T MANE Select	ENSP00000469981.1:p.Leu238=
ENST00000612012.5:c.672G>T	ENSP00000482070.2:p.Leu224=
ENST00000612460.5:c.624G>T	ENSP00000481037.1:p.Leu208=
ENST00000614595.2:n.2061G>T
ENST00000615658.5:n.1303G>T
ENST00000616020.5:c.726G>T	ENSP00000483636.2:p.Leu242=
ENST00000617701.5:c.*727G>T	ENSP00000481645.1:n.*727G>T
ENST00000651139.1:c.-70G>T	ENSP00000498957.1:n.-70G>T
ENST00000652354.1:c.396G>T	ENSP00000498734.1:p.Leu132=
ENST00000652358.1:c.507G>T	ENSP00000498464.1:p.Leu169=
ENST00000652390.1:c.633G>T	ENSP00000498858.1:p.Leu211=
ENST00000652476.1:n.1380G>T
ENST00000652644.1:c.327G>T	ENSP00000498496.1:p.Leu109=
ENST00000652682.1:c.771G>T	ENSP00000498288.1:p.Leu257=
ENST00000652685.1:n.1067G>T
ENST00000369776.8:c.624G>T	ENSP00000358791.4:p.Leu208=
ENST00000426231.5:c.711G>T
ENST00000475699.5:c.672G>T	ENSP00000419854.2:p.Leu224=
ENST00000494912.5:n.1403G>T
ENST00000498029.1:n.172G>T
ENST00000601016.5:c.714G>T	ENSP00000469981.1:p.Leu238=
ENST00000612460.4:c.624G>T	ENSP00000481037.1:p.Leu208=
ENST00000613002.4:c.582G>T	ENSP00000478154.1:p.Leu194=
ENST00000615986.4:c.*442G>T	ENSP00000480133.1:n.*442G>T
NM_000116.4:c.714G>T	NP_000107.1:p.Leu238=
NM_001303465.1:c.726G>T	NP_001290394.1:p.Leu242=
NM_181311.3:c.624G>T	NP_851828.1:p.Leu208=
NM_181312.3:c.672G>T	NP_851829.1:p.Leu224=
NM_181313.3:c.582G>T	NP_851830.1:p.Leu194=
NR_024048.2:n.1056G>T
XM_006724836.1:c.768G>T	XP_006724899.1:p.Leu256=
XM_006724837.1:c.753G>T	XP_006724900.1:p.Leu251=
XM_006724839.1:c.636G>T	XP_006724902.1:p.Leu212=
XM_006724841.2:c.507G>T	XP_006724904.1:p.Leu169=
XM_006724842.2:c.417G>T	XP_006724905.1:p.Leu139=
XM_011531189.1:c.555G>T	XP_011529491.1:p.Leu185=
XM_011531190.1:c.507G>T	XP_011529492.1:p.Leu169=
XM_011531191.1:c.438G>T	XP_011529493.1:p.Leu146=
XM_011531192.1:c.435G>T	XP_011529494.1:p.Leu145=
XR_938511.1:n.1062G>T
XM_006724841.4:c.507G>T	XP_006724904.1:p.Leu169=
XM_006724842.4:c.417G>T	XP_006724905.1:p.Leu139=
XM_011531191.2:c.438G>T	XP_011529493.1:p.Leu146=
XM_017029761.1:c.699G>T	XP_016885250.1:p.Leu233=
XM_017029762.1:c.678G>T	XP_016885251.1:p.Leu226=
XM_017029763.1:c.501G>T	XP_016885252.1:p.Leu167=
XM_017029764.1:c.435G>T	XP_016885253.1:p.Leu145=
XM_017029765.2:c.375G>T	XP_016885254.1:p.Leu125=
XM_024452431.1:c.672G>T	XP_024308199.1:p.Leu224=
NM_000116.5:c.714G>T MANE Select	NP_000107.1:p.Leu238=
NM_001303465.2:c.726G>T	NP_001290394.1:p.Leu242=
NM_181311.4:c.624G>T	NP_851828.1:p.Leu208=
NM_181312.4:c.672G>T	NP_851829.1:p.Leu224=
NM_181313.4:c.582G>T	NP_851830.1:p.Leu194=
NR_024048.3:n.1035G>T