Canonical Allele Identifier: CA2003791813
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092517G= , CM000673.2:g.119092517G= GRCh38
NC_000011.9:g.118963227G= , CM000673.1:g.118963227G= GRCh37
NC_000011.8:g.118468437G= NCBI36
NG_008093.1:g.12641G=

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.600G= ENSP00000509288.1:p.Arg200=
ENST00000691144.1:n.2746G=
ENST00000691249.1:n.1589G=
ENST00000442944.7:c.747G= ENSP00000392041.3:p.Arg249=
ENST00000640813.1:c.*2G= ENSP00000491061.1:n.*2G=
ENST00000648026.1:c.659G= ENSP00000498044.1:n.659G=
ENST00000648374.1:c.714G= ENSP00000497255.1:p.Arg238=
ENST00000649823.1:n.1222G=
ENST00000650101.1:c.696G= ENSP00000496970.1:p.Arg232=
ENST00000650307.1:n.1591G=
ENST00000652429.1:c.765G= MANE Select ENSP00000498786.1:p.Arg255=
ENST00000278715.7:c.765G= ENSP00000278715.3:p.Arg255=
ENST00000392841.1:c.714G= ENSP00000376584.1:p.Arg238=
ENST00000442944.6:c.714G= ENSP00000392041.2:p.Arg238=
ENST00000537841.5:c.714G= ENSP00000444730.1:p.Arg238=
ENST00000542044.5:n.1210G=
ENST00000542729.5:c.601-241G= ENSP00000443058.1:n.601-241G=
ENST00000543090.5:c.672G= ENSP00000445429.1:p.Arg224=
ENST00000543543.5:n.1240G=
ENST00000544182.1:n.980G=
ENST00000544387.5:c.652-241G= ENSP00000438424.1:n.652-241G=
ENST00000546226.5:n.1293G=
NM_000190.3:c.765G= NP_000181.2:p.Arg255=
NM_001024382.1:c.714G= NP_001019553.1:p.Arg238=
NM_001258208.1:c.652-241G= NP_001245137.1:n.652-241G=
NM_001258209.1:c.601-241G= NP_001245138.1:n.601-241G=
XM_005271531.1:c.714G= XP_005271588.1:p.Arg238=
XM_005271532.1:c.714G= XP_005271589.1:p.Arg238=
XM_005271533.2:c.711G= XP_005271590.1:p.Arg237=
XM_011542796.1:c.600G= XP_011541098.1:p.Arg200=
NM_000190.4:c.765G= MANE Select NP_000181.2:p.Arg255=
NM_001024382.2:c.714G= NP_001019553.1:p.Arg238=
XM_005271533.3:c.711G= XP_005271590.1:p.Arg237=
XM_017017629.1:c.714G= XP_016873118.1:p.Arg238=
XM_024448460.1:c.598-241G= XP_024304228.1:n.598-241G=
NM_001258208.2:c.652-241G= NP_001245137.1:n.652-241G=
NM_001258209.2:c.601-241G= NP_001245138.1:n.601-241G=