Canonical Allele Identifier: CA2466675249

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413222G= , CM000685.2:g.154413222G=	GRCh38
NC_000023.10:g.153641559G= , CM000685.1:g.153641559G=	GRCh37
NC_000023.9:g.153294753G=	NCBI36
NG_009634.1:g.6683G=
NG_012884.2:g.3867C=
NG_009634.2:g.6688G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.682G=
ENST00000698235.1:n.241G=
ENST00000698317.1:n.1208G=
ENST00000698318.1:n.1069G=
ENST00000470127.2:n.303G=
ENST00000475699.6:c.308G=	ENSP00000419854.3:p.Arg103=
ENST00000476800.2:n.1211G=
ENST00000483674.3:n.145G=
ENST00000601016.6:c.254G= MANE Select	ENSP00000469981.1:p.Arg85=
ENST00000612012.5:c.254G=	ENSP00000482070.2:p.Arg85=
ENST00000612460.5:c.254G=	ENSP00000481037.1:p.Arg85=
ENST00000614595.2:n.1604G=
ENST00000615658.5:n.567G=
ENST00000616020.5:c.308G=	ENSP00000483636.2:p.Arg103=
ENST00000617701.5:c.254G=	ENSP00000481645.1:p.Arg85=
ENST00000621647.2:n.307G=
ENST00000652354.1:c.-23G=	ENSP00000498734.1:n.-23G=
ENST00000652358.1:c.-41G=	ENSP00000498464.1:n.-41G=
ENST00000652390.1:c.173G=	ENSP00000498858.1:p.Arg58=
ENST00000652476.1:n.415G=
ENST00000652682.1:c.254G=	ENSP00000498288.1:p.Arg85=
ENST00000652685.1:n.306G=
ENST00000369776.8:c.179G=	ENSP00000358791.4:p.Arg60=
ENST00000426231.5:c.70G=
ENST00000439735.2:c.254G=	ENSP00000398193.1:p.Arg85=
ENST00000475699.5:c.254G=	ENSP00000419854.2:p.Arg85=
ENST00000476679.5:n.167G=
ENST00000476800.1:n.132G=
ENST00000479875.1:n.283G=
ENST00000483780.5:n.28G=
ENST00000601016.5:c.254G=	ENSP00000469981.1:p.Arg85=
ENST00000612012.4:c.308G=	ENSP00000482070.1:p.Arg103=
ENST00000612460.4:c.254G=	ENSP00000481037.1:p.Arg85=
ENST00000613002.4:c.254G=	ENSP00000478154.1:p.Arg85=
ENST00000613634.4:n.574G=
ENST00000615658.4:n.580G=
ENST00000615986.4:c.254G=	ENSP00000480133.1:p.Arg85=
ENST00000616020.4:c.308G=	ENSP00000483636.1:p.Arg103=
ENST00000617701.4:c.254G=	ENSP00000481645.1:p.Arg85=
ENST00000620808.4:c.254G=	ENSP00000479311.1:p.Arg85=
ENST00000621647.1:n.539G=
NM_000116.4:c.254G=	NP_000107.1:p.Arg85=
NM_001303465.1:c.308G=	NP_001290394.1:p.Arg103=
NM_181311.3:c.254G=	NP_851828.1:p.Arg85=
NM_181312.3:c.254G=	NP_851829.1:p.Arg85=
NM_181313.3:c.254G=	NP_851830.1:p.Arg85=
NR_024048.2:n.580G=
XM_006724836.1:c.308G=	XP_006724899.1:p.Arg103=
XM_006724837.1:c.308G=	XP_006724900.1:p.Arg103=
XM_006724839.1:c.308G=	XP_006724902.1:p.Arg103=
XM_006724841.2:c.-41G=	XP_006724904.1:n.-41G=
XM_006724842.2:c.-41G=	XP_006724905.1:n.-41G=
XM_011531189.1:c.308G=	XP_011529491.1:p.Arg103=
XM_011531190.1:c.-41G=	XP_011529492.1:n.-41G=
XM_011531191.1:c.-23G=	XP_011529493.1:n.-23G=
XM_011531192.1:c.-144G=	XP_011529494.1:n.-144G=
XR_938511.1:n.611G=
XM_006724841.4:c.-41G=	XP_006724904.1:n.-41G=
XM_006724842.4:c.-41G=	XP_006724905.1:n.-41G=
XM_011531191.2:c.-23G=	XP_011529493.1:n.-23G=
XM_017029761.1:c.254G=	XP_016885250.1:p.Arg85=
XM_017029762.1:c.308G=	XP_016885251.1:p.Arg103=
XM_017029763.1:c.254G=	XP_016885252.1:p.Arg85=
XM_017029765.2:c.-41G=	XP_016885254.1:n.-41G=
XM_024452431.1:c.308G=	XP_024308199.1:p.Arg103=
NM_000116.5:c.254G= MANE Select	NP_000107.1:p.Arg85=
NM_001303465.2:c.308G=	NP_001290394.1:p.Arg103=
NM_181311.4:c.254G=	NP_851828.1:p.Arg85=
NM_181312.4:c.254G=	NP_851829.1:p.Arg85=
NM_181313.4:c.254G=	NP_851830.1:p.Arg85=
NR_024048.3:n.559G=