Canonical Allele Identifier: CA2003793372

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093176C= , CM000673.2:g.119093176C=	GRCh38
NC_000011.9:g.118963886C= , CM000673.1:g.118963886C=	GRCh37
NC_000011.8:g.118469096C=	NCBI36
NG_008093.1:g.13300C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.814C=	ENSP00000509288.1:p.Pro272=
ENST00000691144.1:n.3194C=
ENST00000691249.1:n.1803C=
ENST00000442944.7:c.961C=	ENSP00000392041.3:p.Pro321=
ENST00000640813.1:c.*216C=	ENSP00000491061.1:n.*216C=
ENST00000648026.1:c.873C=	ENSP00000498044.1:n.873C=
ENST00000648374.1:c.928C=	ENSP00000497255.1:p.Pro310=
ENST00000650101.1:c.910C=	ENSP00000496970.1:p.Pro304=
ENST00000650307.1:n.1805C=
ENST00000652429.1:c.979C= MANE Select	ENSP00000498786.1:p.Pro327=
ENST00000278715.7:c.979C=	ENSP00000278715.3:p.Pro327=
ENST00000392841.1:c.928C=	ENSP00000376584.1:p.Pro310=
ENST00000442944.6:c.928C=	ENSP00000392041.2:p.Pro310=
ENST00000537841.5:c.928C=	ENSP00000444730.1:p.Pro310=
ENST00000539045.1:n.478C=
ENST00000542044.5:n.1424C=
ENST00000542729.5:c.808C=	ENSP00000443058.1:p.Pro270=
ENST00000543090.5:c.886C=	ENSP00000445429.1:p.Pro296=
ENST00000543543.5:n.1454C=
ENST00000544182.1:n.1428C=
ENST00000544387.5:c.859C=	ENSP00000438424.1:p.Pro287=
ENST00000546226.5:n.1741C=
NM_000190.3:c.979C=	NP_000181.2:p.Pro327=
NM_001024382.1:c.928C=	NP_001019553.1:p.Pro310=
NM_001258208.1:c.859C=	NP_001245137.1:p.Pro287=
NM_001258209.1:c.808C=	NP_001245138.1:p.Pro270=
XM_005271531.1:c.928C=	XP_005271588.1:p.Pro310=
XM_005271532.1:c.928C=	XP_005271589.1:p.Pro310=
XM_005271533.2:c.925C=	XP_005271590.1:p.Pro309=
XM_011542796.1:c.814C=	XP_011541098.1:p.Pro272=
NM_000190.4:c.979C= MANE Select	NP_000181.2:p.Pro327=
NM_001024382.2:c.928C=	NP_001019553.1:p.Pro310=
XM_005271533.3:c.925C=	XP_005271590.1:p.Pro309=
XM_017017629.1:c.928C=	XP_016873118.1:p.Pro310=
XM_024448460.1:c.805C=	XP_024304228.1:p.Pro269=
NM_001258208.2:c.859C=	NP_001245137.1:p.Pro287=
NM_001258209.2:c.808C=	NP_001245138.1:p.Pro270=