Canonical Allele Identifier: CA2003790945

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092160C= , CM000673.2:g.119092160C=	GRCh38
NC_000011.9:g.118962870C= , CM000673.1:g.118962870C=	GRCh37
NC_000011.8:g.118468080C=	NCBI36
NG_008093.1:g.12284C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.483C=	ENSP00000509288.1:p.Gly161=
ENST00000691144.1:n.2389C=
ENST00000691249.1:n.1232C=
ENST00000442944.7:c.630C=	ENSP00000392041.3:p.Gly210=
ENST00000536813.6:c.597C=	ENSP00000438726.2:p.Gly199=
ENST00000546302.6:c.570C=	ENSP00000445599.1:p.Gly190=
ENST00000640813.1:c.462-244C=	ENSP00000491061.1:n.462-244C=
ENST00000648026.1:c.542C=	ENSP00000498044.1:p.Ala181=
ENST00000648374.1:c.597C=	ENSP00000497255.1:p.Gly199=
ENST00000648488.1:c.*121C=	ENSP00000498079.1:n.*121C=
ENST00000649823.1:n.865C=
ENST00000650101.1:c.579C=	ENSP00000496970.1:p.Gly193=
ENST00000650307.1:n.1474C=
ENST00000652429.1:c.648C= MANE Select	ENSP00000498786.1:p.Gly216=
ENST00000278715.7:c.648C=	ENSP00000278715.3:p.Gly216=
ENST00000392841.1:c.597C=	ENSP00000376584.1:p.Gly199=
ENST00000442944.6:c.597C=	ENSP00000392041.2:p.Gly199=
ENST00000537841.5:c.597C=	ENSP00000444730.1:p.Gly199=
ENST00000542044.5:n.1093C=
ENST00000542345.5:n.786C=
ENST00000542729.5:c.597C=	ENSP00000443058.1:p.Gly199=
ENST00000543090.5:c.559-244C=	ENSP00000445429.1:n.559-244C=
ENST00000543543.5:n.883C=
ENST00000544182.1:n.623C=
ENST00000544387.5:c.648C=	ENSP00000438424.1:p.Gly216=
ENST00000545621.5:c.*543C=	ENSP00000444849.1:n.*543C=
ENST00000546226.5:n.936C=
ENST00000546302.5:c.570C=	ENSP00000445599.1:p.Gly190=
NM_000190.3:c.648C=	NP_000181.2:p.Gly216=
NM_001024382.1:c.597C=	NP_001019553.1:p.Gly199=
NM_001258208.1:c.648C=	NP_001245137.1:p.Gly216=
NM_001258209.1:c.597C=	NP_001245138.1:p.Gly199=
XM_005271531.1:c.597C=	XP_005271588.1:p.Gly199=
XM_005271532.1:c.597C=	XP_005271589.1:p.Gly199=
XM_005271533.2:c.594C=	XP_005271590.1:p.Gly198=
XM_011542796.1:c.483C=	XP_011541098.1:p.Gly161=
NM_000190.4:c.648C= MANE Select	NP_000181.2:p.Gly216=
NM_001024382.2:c.597C=	NP_001019553.1:p.Gly199=
XM_005271533.3:c.594C=	XP_005271590.1:p.Gly198=
XM_017017629.1:c.597C=	XP_016873118.1:p.Gly199=
XM_024448460.1:c.594C=	XP_024304228.1:p.Gly198=
NM_001258208.2:c.648C=	NP_001245137.1:p.Gly216=
NM_001258209.2:c.597C=	NP_001245138.1:p.Gly199=