Canonical Allele Identifier: CA2003793396

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093186C= , CM000673.2:g.119093186C=	GRCh38
NC_000011.9:g.118963896C= , CM000673.1:g.118963896C=	GRCh37
NC_000011.8:g.118469106C=	NCBI36
NG_008093.1:g.13310C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.824C=	ENSP00000509288.1:p.Ala275=
ENST00000691144.1:n.3204C=
ENST00000691249.1:n.1813C=
ENST00000442944.7:c.971C=	ENSP00000392041.3:p.Ala324=
ENST00000640813.1:c.*226C=	ENSP00000491061.1:n.*226C=
ENST00000648026.1:c.883C=	ENSP00000498044.1:n.883C=
ENST00000648374.1:c.938C=	ENSP00000497255.1:p.Ala313=
ENST00000650101.1:c.920C=	ENSP00000496970.1:p.Ala307=
ENST00000650307.1:n.1815C=
ENST00000652429.1:c.989C= MANE Select	ENSP00000498786.1:p.Ala330=
ENST00000278715.7:c.989C=	ENSP00000278715.3:p.Ala330=
ENST00000392841.1:c.938C=	ENSP00000376584.1:p.Ala313=
ENST00000442944.6:c.938C=	ENSP00000392041.2:p.Ala313=
ENST00000537841.5:c.938C=	ENSP00000444730.1:p.Ala313=
ENST00000539045.1:n.488C=
ENST00000542044.5:n.1434C=
ENST00000542729.5:c.818C=	ENSP00000443058.1:p.Ala273=
ENST00000543090.5:c.896C=	ENSP00000445429.1:p.Ala299=
ENST00000543543.5:n.1464C=
ENST00000544182.1:n.1438C=
ENST00000544387.5:c.869C=	ENSP00000438424.1:p.Ala290=
ENST00000546226.5:n.1751C=
NM_000190.3:c.989C=	NP_000181.2:p.Ala330=
NM_001024382.1:c.938C=	NP_001019553.1:p.Ala313=
NM_001258208.1:c.869C=	NP_001245137.1:p.Ala290=
NM_001258209.1:c.818C=	NP_001245138.1:p.Ala273=
XM_005271531.1:c.938C=	XP_005271588.1:p.Ala313=
XM_005271532.1:c.938C=	XP_005271589.1:p.Ala313=
XM_005271533.2:c.935C=	XP_005271590.1:p.Ala312=
XM_011542796.1:c.824C=	XP_011541098.1:p.Ala275=
NM_000190.4:c.989C= MANE Select	NP_000181.2:p.Ala330=
NM_001024382.2:c.938C=	NP_001019553.1:p.Ala313=
XM_005271533.3:c.935C=	XP_005271590.1:p.Ala312=
XM_017017629.1:c.938C=	XP_016873118.1:p.Ala313=
XM_024448460.1:c.815C=	XP_024304228.1:p.Ala272=
NM_001258208.2:c.869C=	NP_001245137.1:p.Ala290=
NM_001258209.2:c.818C=	NP_001245138.1:p.Ala273=