Canonical Allele Identifier: CA519278026

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648411C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420072C>T , CM000685.2:g.154420072C>T	GRCh38
NC_000023.10:g.153648411C>T , CM000685.1:g.153648411C>T	GRCh37
NC_000023.9:g.153301605C>T	NCBI36
NG_009634.1:g.13535C>T
NG_009634.2:g.13538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1434C>T
ENST00000698317.1:n.2050C>T
ENST00000698318.1:n.1833C>T
ENST00000698319.1:n.1196C>T
ENST00000698320.1:n.1084C>T
ENST00000470127.2:n.1097C>T
ENST00000475699.6:c.588C>T	ENSP00000419854.3:p.Ile196=
ENST00000483674.3:n.506C>T
ENST00000601016.6:c.624C>T MANE Select	ENSP00000469981.1:p.Ile208=
ENST00000612012.5:c.582C>T	ENSP00000482070.2:p.Ile194=
ENST00000612460.5:c.534C>T	ENSP00000481037.1:p.Ile178=
ENST00000614595.2:n.1971C>T
ENST00000615658.5:n.1213C>T
ENST00000616020.5:c.636C>T	ENSP00000483636.2:p.Ile212=
ENST00000617701.5:c.*637C>T	ENSP00000481645.1:n.*637C>T
ENST00000652354.1:c.306C>T	ENSP00000498734.1:p.Ile102=
ENST00000652358.1:c.417C>T	ENSP00000498464.1:p.Ile139=
ENST00000652390.1:c.543C>T	ENSP00000498858.1:p.Ile181=
ENST00000652476.1:n.1290C>T
ENST00000652644.1:c.237C>T	ENSP00000498496.1:p.Ile79=
ENST00000652682.1:c.681C>T	ENSP00000498288.1:p.Ile227=
ENST00000652685.1:n.977C>T
ENST00000369776.8:c.417C>T	ENSP00000358791.4:p.Ile139=
ENST00000426231.5:c.621C>T
ENST00000439735.2:c.531C>T	ENSP00000398193.1:p.Ile177=
ENST00000470127.1:n.203C>T
ENST00000475699.5:c.582C>T	ENSP00000419854.2:p.Ile194=
ENST00000494912.5:n.1313C>T
ENST00000498029.1:n.82C>T
ENST00000601016.5:c.624C>T	ENSP00000469981.1:p.Ile208=
ENST00000612012.4:c.588C>T	ENSP00000482070.1:p.Ile196=
ENST00000612460.4:c.534C>T	ENSP00000481037.1:p.Ile178=
ENST00000613002.4:c.492C>T	ENSP00000478154.1:p.Ile164=
ENST00000615658.4:n.1313C>T
ENST00000615986.4:c.*352C>T	ENSP00000480133.1:n.*352C>T
ENST00000620808.4:c.*210C>T	ENSP00000479311.1:n.*210C>T
NM_000116.4:c.624C>T	NP_000107.1:p.Ile208=
NM_001303465.1:c.636C>T	NP_001290394.1:p.Ile212=
NM_181311.3:c.534C>T	NP_851828.1:p.Ile178=
NM_181312.3:c.582C>T	NP_851829.1:p.Ile194=
NM_181313.3:c.492C>T	NP_851830.1:p.Ile164=
NR_024048.2:n.966C>T
XM_006724836.1:c.678C>T	XP_006724899.1:p.Ile226=
XM_006724837.1:c.546C>T	XP_006724900.1:p.Ile182=
XM_006724839.1:c.546C>T	XP_006724902.1:p.Ile182=
XM_006724841.2:c.417C>T	XP_006724904.1:p.Ile139=
XM_006724842.2:c.327C>T	XP_006724905.1:p.Ile109=
XM_011531189.1:c.465C>T	XP_011529491.1:p.Ile155=
XM_011531190.1:c.417C>T	XP_011529492.1:p.Ile139=
XM_011531191.1:c.348C>T	XP_011529493.1:p.Ile116=
XM_011531192.1:c.345C>T	XP_011529494.1:p.Ile115=
XR_938511.1:n.972C>T
XM_006724841.4:c.417C>T	XP_006724904.1:p.Ile139=
XM_006724842.4:c.327C>T	XP_006724905.1:p.Ile109=
XM_011531191.2:c.348C>T	XP_011529493.1:p.Ile116=
XM_017029761.1:c.492C>T	XP_016885250.1:p.Ile164=
XM_017029762.1:c.588C>T	XP_016885251.1:p.Ile196=
XM_017029763.1:c.411C>T	XP_016885252.1:p.Ile137=
XM_017029764.1:c.345C>T	XP_016885253.1:p.Ile115=
XM_017029765.2:c.285C>T	XP_016885254.1:p.Ile95=
XM_024452431.1:c.465C>T	XP_024308199.1:p.Ile155=
NM_000116.5:c.624C>T MANE Select	NP_000107.1:p.Ile208=
NM_001303465.2:c.636C>T	NP_001290394.1:p.Ile212=
NM_181311.4:c.534C>T	NP_851828.1:p.Ile178=
NM_181312.4:c.582C>T	NP_851829.1:p.Ile194=
NM_181313.4:c.492C>T	NP_851830.1:p.Ile164=
NR_024048.3:n.945C>T