Canonical Allele Identifier: CA2003793214

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093113G= , CM000673.2:g.119093113G=	GRCh38
NC_000011.9:g.118963823G= , CM000673.1:g.118963823G=	GRCh37
NC_000011.8:g.118469033G=	NCBI36
NG_008093.1:g.13237G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.751G=	ENSP00000509288.1:p.Glu251=
ENST00000691144.1:n.3131G=
ENST00000691249.1:n.1740G=
ENST00000442944.7:c.898G=	ENSP00000392041.3:p.Glu300=
ENST00000640813.1:c.*153G=	ENSP00000491061.1:n.*153G=
ENST00000648026.1:c.810G=	ENSP00000498044.1:n.810G=
ENST00000648374.1:c.865G=	ENSP00000497255.1:p.Glu289=
ENST00000650101.1:c.847G=	ENSP00000496970.1:p.Glu283=
ENST00000650307.1:n.1742G=
ENST00000652429.1:c.916G= MANE Select	ENSP00000498786.1:p.Glu306=
ENST00000278715.7:c.916G=	ENSP00000278715.3:p.Glu306=
ENST00000392841.1:c.865G=	ENSP00000376584.1:p.Glu289=
ENST00000442944.6:c.865G=	ENSP00000392041.2:p.Glu289=
ENST00000537841.5:c.865G=	ENSP00000444730.1:p.Glu289=
ENST00000539045.1:n.415G=
ENST00000542044.5:n.1361G=
ENST00000542729.5:c.745G=	ENSP00000443058.1:p.Glu249=
ENST00000543090.5:c.823G=	ENSP00000445429.1:p.Glu275=
ENST00000543543.5:n.1391G=
ENST00000544182.1:n.1365G=
ENST00000544387.5:c.796G=	ENSP00000438424.1:p.Glu266=
ENST00000546226.5:n.1678G=
NM_000190.3:c.916G=	NP_000181.2:p.Glu306=
NM_001024382.1:c.865G=	NP_001019553.1:p.Glu289=
NM_001258208.1:c.796G=	NP_001245137.1:p.Glu266=
NM_001258209.1:c.745G=	NP_001245138.1:p.Glu249=
XM_005271531.1:c.865G=	XP_005271588.1:p.Glu289=
XM_005271532.1:c.865G=	XP_005271589.1:p.Glu289=
XM_005271533.2:c.862G=	XP_005271590.1:p.Glu288=
XM_011542796.1:c.751G=	XP_011541098.1:p.Glu251=
NM_000190.4:c.916G= MANE Select	NP_000181.2:p.Glu306=
NM_001024382.2:c.865G=	NP_001019553.1:p.Glu289=
XM_005271533.3:c.862G=	XP_005271590.1:p.Glu288=
XM_017017629.1:c.865G=	XP_016873118.1:p.Glu289=
XM_024448460.1:c.742G=	XP_024304228.1:p.Glu248=
NM_001258208.2:c.796G=	NP_001245137.1:p.Glu266=
NM_001258209.2:c.745G=	NP_001245138.1:p.Glu249=