Canonical Allele Identifier: CA337288728

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs946316907
• MyVariant Identifiers: chrX:g.153649053C>A (hg19) ; chrX:g.154420714C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420714C>A , CM000685.2:g.154420714C>A	GRCh38
NC_000023.10:g.153649053C>A , CM000685.1:g.153649053C>A	GRCh37
NC_000023.9:g.153302247C>A	NCBI36
NG_009634.1:g.14177C>A
NG_009634.2:g.14180C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1566C>A
ENST00000698317.1:n.2182C>A
ENST00000698318.1:n.1965C>A
ENST00000698319.1:n.1328C>A
ENST00000698320.1:n.1216C>A
ENST00000470127.2:n.1229C>A
ENST00000475699.6:c.720C>A	ENSP00000419854.3:p.Leu240=
ENST00000483674.3:n.638C>A
ENST00000601016.6:c.756C>A MANE Select	ENSP00000469981.1:p.Leu252=
ENST00000612012.5:c.714C>A	ENSP00000482070.2:p.Leu238=
ENST00000612460.5:c.666C>A	ENSP00000481037.1:p.Leu222=
ENST00000614595.2:n.2103C>A
ENST00000615658.5:n.1345C>A
ENST00000616020.5:c.768C>A	ENSP00000483636.2:p.Leu256=
ENST00000617701.5:c.*769C>A	ENSP00000481645.1:n.*769C>A
ENST00000651139.1:c.-28C>A	ENSP00000498957.1:n.-28C>A
ENST00000652354.1:c.438C>A	ENSP00000498734.1:p.Leu146=
ENST00000652358.1:c.549C>A	ENSP00000498464.1:p.Leu183=
ENST00000652390.1:c.675C>A	ENSP00000498858.1:p.Leu225=
ENST00000652476.1:n.1422C>A
ENST00000652644.1:c.369C>A	ENSP00000498496.1:p.Leu123=
ENST00000652682.1:c.813C>A	ENSP00000498288.1:p.Leu271=
ENST00000652685.1:n.1109C>A
ENST00000369776.8:c.666C>A	ENSP00000358791.4:p.Leu222=
ENST00000426231.5:c.753C>A
ENST00000475699.5:c.714C>A	ENSP00000419854.2:p.Leu238=
ENST00000494912.5:n.1445C>A
ENST00000498029.1:n.214C>A
ENST00000601016.5:c.756C>A	ENSP00000469981.1:p.Leu252=
ENST00000612460.4:c.666C>A	ENSP00000481037.1:p.Leu222=
ENST00000613002.4:c.624C>A	ENSP00000478154.1:p.Leu208=
ENST00000615986.4:c.*484C>A	ENSP00000480133.1:n.*484C>A
NM_000116.4:c.756C>A	NP_000107.1:p.Leu252=
NM_001303465.1:c.768C>A	NP_001290394.1:p.Leu256=
NM_181311.3:c.666C>A	NP_851828.1:p.Leu222=
NM_181312.3:c.714C>A	NP_851829.1:p.Leu238=
NM_181313.3:c.624C>A	NP_851830.1:p.Leu208=
NR_024048.2:n.1098C>A
XM_006724836.1:c.810C>A	XP_006724899.1:p.Leu270=
XM_006724837.1:c.795C>A	XP_006724900.1:p.Leu265=
XM_006724839.1:c.678C>A	XP_006724902.1:p.Leu226=
XM_006724841.2:c.549C>A	XP_006724904.1:p.Leu183=
XM_006724842.2:c.459C>A	XP_006724905.1:p.Leu153=
XM_011531189.1:c.597C>A	XP_011529491.1:p.Leu199=
XM_011531190.1:c.549C>A	XP_011529492.1:p.Leu183=
XM_011531191.1:c.480C>A	XP_011529493.1:p.Leu160=
XM_011531192.1:c.477C>A	XP_011529494.1:p.Leu159=
XR_938511.1:n.1104C>A
XM_006724841.4:c.549C>A	XP_006724904.1:p.Leu183=
XM_006724842.4:c.459C>A	XP_006724905.1:p.Leu153=
XM_011531191.2:c.480C>A	XP_011529493.1:p.Leu160=
XM_017029761.1:c.741C>A	XP_016885250.1:p.Leu247=
XM_017029762.1:c.720C>A	XP_016885251.1:p.Leu240=
XM_017029763.1:c.543C>A	XP_016885252.1:p.Leu181=
XM_017029764.1:c.477C>A	XP_016885253.1:p.Leu159=
XM_017029765.2:c.417C>A	XP_016885254.1:p.Leu139=
XM_024452431.1:c.714C>A	XP_024308199.1:p.Leu238=
NM_000116.5:c.756C>A MANE Select	NP_000107.1:p.Leu252=
NM_001303465.2:c.768C>A	NP_001290394.1:p.Leu256=
NM_181311.4:c.666C>A	NP_851828.1:p.Leu222=
NM_181312.4:c.714C>A	NP_851829.1:p.Leu238=
NM_181313.4:c.624C>A	NP_851830.1:p.Leu208=
NR_024048.3:n.1077C>A