Canonical Allele Identifier: CA2003793230

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093122C= , CM000673.2:g.119093122C=	GRCh38
NC_000011.9:g.118963832C= , CM000673.1:g.118963832C=	GRCh37
NC_000011.8:g.118469042C=	NCBI36
NG_008093.1:g.13246C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.760C=	ENSP00000509288.1:p.Pro254=
ENST00000691144.1:n.3140C=
ENST00000691249.1:n.1749C=
ENST00000442944.7:c.907C=	ENSP00000392041.3:p.Pro303=
ENST00000640813.1:c.*162C=	ENSP00000491061.1:n.*162C=
ENST00000648026.1:c.819C=	ENSP00000498044.1:n.819C=
ENST00000648374.1:c.874C=	ENSP00000497255.1:p.Pro292=
ENST00000650101.1:c.856C=	ENSP00000496970.1:p.Pro286=
ENST00000650307.1:n.1751C=
ENST00000652429.1:c.925C= MANE Select	ENSP00000498786.1:p.Pro309=
ENST00000278715.7:c.925C=	ENSP00000278715.3:p.Pro309=
ENST00000392841.1:c.874C=	ENSP00000376584.1:p.Pro292=
ENST00000442944.6:c.874C=	ENSP00000392041.2:p.Pro292=
ENST00000537841.5:c.874C=	ENSP00000444730.1:p.Pro292=
ENST00000539045.1:n.424C=
ENST00000542044.5:n.1370C=
ENST00000542729.5:c.754C=	ENSP00000443058.1:p.Pro252=
ENST00000543090.5:c.832C=	ENSP00000445429.1:p.Pro278=
ENST00000543543.5:n.1400C=
ENST00000544182.1:n.1374C=
ENST00000544387.5:c.805C=	ENSP00000438424.1:p.Pro269=
ENST00000546226.5:n.1687C=
NM_000190.3:c.925C=	NP_000181.2:p.Pro309=
NM_001024382.1:c.874C=	NP_001019553.1:p.Pro292=
NM_001258208.1:c.805C=	NP_001245137.1:p.Pro269=
NM_001258209.1:c.754C=	NP_001245138.1:p.Pro252=
XM_005271531.1:c.874C=	XP_005271588.1:p.Pro292=
XM_005271532.1:c.874C=	XP_005271589.1:p.Pro292=
XM_005271533.2:c.871C=	XP_005271590.1:p.Pro291=
XM_011542796.1:c.760C=	XP_011541098.1:p.Pro254=
NM_000190.4:c.925C= MANE Select	NP_000181.2:p.Pro309=
NM_001024382.2:c.874C=	NP_001019553.1:p.Pro292=
XM_005271533.3:c.871C=	XP_005271590.1:p.Pro291=
XM_017017629.1:c.874C=	XP_016873118.1:p.Pro292=
XM_024448460.1:c.751C=	XP_024304228.1:p.Pro251=
NM_001258208.2:c.805C=	NP_001245137.1:p.Pro269=
NM_001258209.2:c.754C=	NP_001245138.1:p.Pro252=