Canonical Allele Identifier: CA251830
Gene: HMBS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1471
ClinVar RCV Id: RCV000001536
dbSNP Id: rs118204112

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092500G>A , CM000673.2:g.119092500G>A GRCh38
NC_000011.8:g.118468420G>A NCBI36
NC_000011.9:g.118963210G>A , CM000673.1:g.118963210G>A GRCh37
NG_008093.1:g.12624G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000278715.7:c.748G>A ENSP00000278715.3:p.Glu250Lys
ENST00000392841.1:c.697G>A ENSP00000376584.1:p.Glu233Lys
ENST00000442944.6:c.697G>A ENSP00000392041.2:p.Glu233Lys
ENST00000537841.5:c.697G>A ENSP00000444730.1:p.Glu233Lys
ENST00000542044.5:n.1193G>A
ENST00000542729.5:c.601-258G>A ENSP00000443058.1:p.=
ENST00000543090.5:c.655G>A ENSP00000445429.1:p.Glu219Lys
ENST00000543543.5:n.1223G>A
ENST00000544182.1:n.963G>A
ENST00000544387.5:c.652-258G>A ENSP00000438424.1:p.=
ENST00000545621.5:c.*883G>A ENSP00000444849.1:p.=
ENST00000546226.5:n.1276G>A
NM_000190.3:c.748G>A NP_000181.2:p.Glu250Lys
NM_001024382.1:c.697G>A NP_001019553.1:p.Glu233Lys
NM_001258208.1:c.652-258G>A NP_001245137.1:p.=
NM_001258209.1:c.601-258G>A NP_001245138.1:p.=
XM_005271531.1:c.697G>A XP_005271588.1:p.Glu233Lys
XM_005271532.1:c.697G>A XP_005271589.1:p.Glu233Lys
XM_005271533.2:c.694G>A XP_005271590.1:p.Glu232Lys
XM_011542796.1:c.583G>A XP_011541098.1:p.Glu195Lys