Canonical Allele Identifier: CA251834
Gene: HMBS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1473
ClinVar RCV Id: RCV000001538
dbSNP Id: rs118204114

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092507C>T , CM000673.2:g.119092507C>T GRCh38
NC_000011.9:g.118963217C>T , CM000673.1:g.118963217C>T GRCh37
NC_000011.8:g.118468427C>T NCBI36
NG_008093.1:g.12631C>T

Transcript Alleles

HGVS Amino-acid change
NM_000190.3:c.755C>T VV NP_000181.2:p.Ala252Val
NM_001024382.1:c.704C>T VV NP_001019553.1:p.Ala235Val
NM_001258208.1:c.652-251C>T VV NP_001245137.1:p.=
NM_001258209.1:c.601-251C>T VV NP_001245138.1:p.=
XM_005271531.1:c.704C>T XP_005271588.1:p.Ala235Val
XM_005271532.1:c.704C>T XP_005271589.1:p.Ala235Val
XM_005271533.2:c.701C>T XP_005271590.1:p.Ala234Val
XM_011542796.1:c.590C>T XP_011541098.1:p.Ala197Val
NM_000190.4:c.755C>T VV NP_000181.2:p.Ala252Val
NM_001024382.2:c.704C>T VV NP_001019553.1:p.Ala235Val
XM_005271533.3:c.701C>T XP_005271590.1:p.Ala234Val
XM_017017629.1:c.704C>T XP_016873118.1:p.Ala235Val
XM_024448460.1:c.598-251C>T XP_024304228.1:p.=
ENST00000278715.7:c.755C>T ENSP00000278715.3:p.Ala252Val
ENST00000392841.1:c.704C>T ENSP00000376584.1:p.Ala235Val
ENST00000442944.6:c.704C>T ENSP00000392041.2:p.Ala235Val
ENST00000537841.5:c.704C>T ENSP00000444730.1:p.Ala235Val
ENST00000542044.5:n.1200C>T
ENST00000542729.5:c.601-251C>T ENSP00000443058.1:p.=
ENST00000543090.5:c.662C>T ENSP00000445429.1:p.Ala221Val
ENST00000543543.5:n.1230C>T
ENST00000544182.1:n.970C>T
ENST00000544387.5:c.652-251C>T ENSP00000438424.1:p.=
ENST00000546226.5:n.1283C>T