Canonical Allele Identifier: CA2003791786
Gene: HMBS HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.590C= ENSP00000509288.1:p.Ala197=
ENST00000691144.1:n.2736C=
ENST00000691249.1:n.1579C=
ENST00000442944.7:c.737C= ENSP00000392041.3:p.Ala246=
ENST00000640813.1:c.565C= ENSP00000491061.1:p.Pro189=
ENST00000648026.1:c.649C= ENSP00000498044.1:p.Pro217=
ENST00000648374.1:c.704C= ENSP00000497255.1:p.Ala235=
ENST00000649823.1:n.1212C=
ENST00000650101.1:c.686C= ENSP00000496970.1:p.Ala229=
ENST00000650307.1:n.1581C=
ENST00000652429.1:c.755C= MANE Select ENSP00000498786.1:p.Ala252=
ENST00000278715.7:c.755C= ENSP00000278715.3:p.Ala252=
ENST00000392841.1:c.704C= ENSP00000376584.1:p.Ala235=
ENST00000442944.6:c.704C= ENSP00000392041.2:p.Ala235=
ENST00000537841.5:c.704C= ENSP00000444730.1:p.Ala235=
ENST00000542044.5:n.1200C=
ENST00000542729.5:c.601-251C= ENSP00000443058.1:n.601-251C=
ENST00000543090.5:c.662C= ENSP00000445429.1:p.Ala221=
ENST00000543543.5:n.1230C=
ENST00000544182.1:n.970C=
ENST00000544387.5:c.652-251C= ENSP00000438424.1:n.652-251C=
ENST00000546226.5:n.1283C=
NM_000190.3:c.755C= NP_000181.2:p.Ala252=
NM_001024382.1:c.704C= NP_001019553.1:p.Ala235=
NM_001258208.1:c.652-251C= NP_001245137.1:n.652-251C=
NM_001258209.1:c.601-251C= NP_001245138.1:n.601-251C=
XM_005271531.1:c.704C= XP_005271588.1:p.Ala235=
XM_005271532.1:c.704C= XP_005271589.1:p.Ala235=
XM_005271533.2:c.701C= XP_005271590.1:p.Ala234=
XM_011542796.1:c.590C= XP_011541098.1:p.Ala197=
NM_000190.4:c.755C= MANE Select NP_000181.2:p.Ala252=
NM_001024382.2:c.704C= NP_001019553.1:p.Ala235=
XM_005271533.3:c.701C= XP_005271590.1:p.Ala234=
XM_017017629.1:c.704C= XP_016873118.1:p.Ala235=
XM_024448460.1:c.598-251C= XP_024304228.1:n.598-251C=
NM_001258208.2:c.652-251C= NP_001245137.1:n.652-251C=
NM_001258209.2:c.601-251C= NP_001245138.1:n.601-251C=