Canonical Allele Identifier: CA2466677791

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420705C= , CM000685.2:g.154420705C=	GRCh38
NC_000023.10:g.153649044C= , CM000685.1:g.153649044C=	GRCh37
NC_000023.9:g.153302238C=	NCBI36
NG_009634.1:g.14168C=
NG_009634.2:g.14171C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1557C=
ENST00000698317.1:n.2173C=
ENST00000698318.1:n.1956C=
ENST00000698319.1:n.1319C=
ENST00000698320.1:n.1207C=
ENST00000470127.2:n.1220C=
ENST00000475699.6:c.711C=	ENSP00000419854.3:p.Leu237=
ENST00000483674.3:n.629C=
ENST00000601016.6:c.747C= MANE Select	ENSP00000469981.1:p.Leu249=
ENST00000612012.5:c.705C=	ENSP00000482070.2:p.Leu235=
ENST00000612460.5:c.657C=	ENSP00000481037.1:p.Leu219=
ENST00000614595.2:n.2094C=
ENST00000615658.5:n.1336C=
ENST00000616020.5:c.759C=	ENSP00000483636.2:p.Leu253=
ENST00000617701.5:c.*760C=	ENSP00000481645.1:n.*760C=
ENST00000651139.1:c.-37C=	ENSP00000498957.1:n.-37C=
ENST00000652354.1:c.429C=	ENSP00000498734.1:p.Leu143=
ENST00000652358.1:c.540C=	ENSP00000498464.1:p.Leu180=
ENST00000652390.1:c.666C=	ENSP00000498858.1:p.Leu222=
ENST00000652476.1:n.1413C=
ENST00000652644.1:c.360C=	ENSP00000498496.1:p.Leu120=
ENST00000652682.1:c.804C=	ENSP00000498288.1:p.Leu268=
ENST00000652685.1:n.1100C=
ENST00000369776.8:c.657C=	ENSP00000358791.4:p.Leu219=
ENST00000426231.5:c.744C=
ENST00000475699.5:c.705C=	ENSP00000419854.2:p.Leu235=
ENST00000494912.5:n.1436C=
ENST00000498029.1:n.205C=
ENST00000601016.5:c.747C=	ENSP00000469981.1:p.Leu249=
ENST00000612460.4:c.657C=	ENSP00000481037.1:p.Leu219=
ENST00000613002.4:c.615C=	ENSP00000478154.1:p.Leu205=
ENST00000615986.4:c.*475C=	ENSP00000480133.1:n.*475C=
NM_000116.4:c.747C=	NP_000107.1:p.Leu249=
NM_001303465.1:c.759C=	NP_001290394.1:p.Leu253=
NM_181311.3:c.657C=	NP_851828.1:p.Leu219=
NM_181312.3:c.705C=	NP_851829.1:p.Leu235=
NM_181313.3:c.615C=	NP_851830.1:p.Leu205=
NR_024048.2:n.1089C=
XM_006724836.1:c.801C=	XP_006724899.1:p.Leu267=
XM_006724837.1:c.786C=	XP_006724900.1:p.Leu262=
XM_006724839.1:c.669C=	XP_006724902.1:p.Leu223=
XM_006724841.2:c.540C=	XP_006724904.1:p.Leu180=
XM_006724842.2:c.450C=	XP_006724905.1:p.Leu150=
XM_011531189.1:c.588C=	XP_011529491.1:p.Leu196=
XM_011531190.1:c.540C=	XP_011529492.1:p.Leu180=
XM_011531191.1:c.471C=	XP_011529493.1:p.Leu157=
XM_011531192.1:c.468C=	XP_011529494.1:p.Leu156=
XR_938511.1:n.1095C=
XM_006724841.4:c.540C=	XP_006724904.1:p.Leu180=
XM_006724842.4:c.450C=	XP_006724905.1:p.Leu150=
XM_011531191.2:c.471C=	XP_011529493.1:p.Leu157=
XM_017029761.1:c.732C=	XP_016885250.1:p.Leu244=
XM_017029762.1:c.711C=	XP_016885251.1:p.Leu237=
XM_017029763.1:c.534C=	XP_016885252.1:p.Leu178=
XM_017029764.1:c.468C=	XP_016885253.1:p.Leu156=
XM_017029765.2:c.408C=	XP_016885254.1:p.Leu136=
XM_024452431.1:c.705C=	XP_024308199.1:p.Leu235=
NM_000116.5:c.747C= MANE Select	NP_000107.1:p.Leu249=
NM_001303465.2:c.759C=	NP_001290394.1:p.Leu253=
NM_181311.4:c.657C=	NP_851828.1:p.Leu219=
NM_181312.4:c.705C=	NP_851829.1:p.Leu235=
NM_181313.4:c.615C=	NP_851830.1:p.Leu205=
NR_024048.3:n.1068C=