Canonical Allele Identifier: CA2466677890

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420948C= , CM000685.2:g.154420948C=	GRCh38
NC_000023.10:g.153649287C= , CM000685.1:g.153649287C=	GRCh37
NC_000023.9:g.153302481C=	NCBI36
NG_009634.1:g.14411C=
NG_009634.2:g.14414C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1633C=
ENST00000698317.1:n.2249C=
ENST00000698318.1:n.2032C=
ENST00000698319.1:n.1395C=
ENST00000698320.1:n.1450C=
ENST00000470127.2:n.1296C=
ENST00000475699.6:c.787C=	ENSP00000419854.3:p.Gln263=
ENST00000483674.3:n.705C=
ENST00000601016.6:c.823C= MANE Select	ENSP00000469981.1:p.Gln275=
ENST00000612012.5:c.781C=	ENSP00000482070.2:p.Gln261=
ENST00000612460.5:c.733C=	ENSP00000481037.1:p.Gln245=
ENST00000614595.2:n.2170C=
ENST00000615658.5:n.1412C=
ENST00000616020.5:c.835C=	ENSP00000483636.2:p.Gln279=
ENST00000617701.5:c.*836C=	ENSP00000481645.1:n.*836C=
ENST00000651139.1:c.40C=	ENSP00000498957.1:p.Gln14=
ENST00000652354.1:c.505C=	ENSP00000498734.1:p.Gln169=
ENST00000652358.1:c.616C=	ENSP00000498464.1:p.Gln206=
ENST00000652390.1:c.742C=	ENSP00000498858.1:p.Gln248=
ENST00000652476.1:n.1489C=
ENST00000652644.1:c.436C=	ENSP00000498496.1:p.Gln146=
ENST00000652682.1:c.880C=	ENSP00000498288.1:p.Gln294=
ENST00000652685.1:n.1176C=
ENST00000369776.8:c.733C=	ENSP00000358791.4:p.Gln245=
ENST00000426231.5:c.820C=
ENST00000475699.5:c.781C=	ENSP00000419854.2:p.Gln261=
ENST00000494912.5:n.1512C=
ENST00000498029.1:n.281C=
ENST00000601016.5:c.823C=	ENSP00000469981.1:p.Gln275=
ENST00000612460.4:c.733C=	ENSP00000481037.1:p.Gln245=
ENST00000613002.4:c.691C=	ENSP00000478154.1:p.Gln231=
ENST00000615986.4:c.*551C=	ENSP00000480133.1:n.*551C=
NM_000116.4:c.823C=	NP_000107.1:p.Gln275=
NM_001303465.1:c.835C=	NP_001290394.1:p.Gln279=
NM_181311.3:c.733C=	NP_851828.1:p.Gln245=
NM_181312.3:c.781C=	NP_851829.1:p.Gln261=
NM_181313.3:c.691C=	NP_851830.1:p.Gln231=
NR_024048.2:n.1165C=
XM_006724836.1:c.877C=	XP_006724899.1:p.Gln293=
XM_006724837.1:c.862C=	XP_006724900.1:p.Gln288=
XM_006724839.1:c.745C=	XP_006724902.1:p.Gln249=
XM_006724841.2:c.616C=	XP_006724904.1:p.Gln206=
XM_006724842.2:c.526C=	XP_006724905.1:p.Gln176=
XM_011531189.1:c.664C=	XP_011529491.1:p.Gln222=
XM_011531190.1:c.616C=	XP_011529492.1:p.Gln206=
XM_011531191.1:c.547C=	XP_011529493.1:p.Gln183=
XM_011531192.1:c.544C=	XP_011529494.1:p.Gln182=
XR_938511.1:n.1171C=
XM_006724841.4:c.616C=	XP_006724904.1:p.Gln206=
XM_006724842.4:c.526C=	XP_006724905.1:p.Gln176=
XM_011531191.2:c.547C=	XP_011529493.1:p.Gln183=
XM_017029761.1:c.808C=	XP_016885250.1:p.Gln270=
XM_017029762.1:c.787C=	XP_016885251.1:p.Gln263=
XM_017029763.1:c.610C=	XP_016885252.1:p.Gln204=
XM_017029764.1:c.544C=	XP_016885253.1:p.Gln182=
XM_017029765.2:c.484C=	XP_016885254.1:p.Gln162=
XM_024452431.1:c.781C=	XP_024308199.1:p.Gln261=
NM_000116.5:c.823C= MANE Select	NP_000107.1:p.Gln275=
NM_001303465.2:c.835C=	NP_001290394.1:p.Gln279=
NM_181311.4:c.733C=	NP_851828.1:p.Gln245=
NM_181312.4:c.781C=	NP_851829.1:p.Gln261=
NM_181313.4:c.691C=	NP_851830.1:p.Gln231=
NR_024048.3:n.1144C=