Canonical Allele Identifier: CA2003791808
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092516G= , CM000673.2:g.119092516G= GRCh38
NC_000011.9:g.118963226G= , CM000673.1:g.118963226G= GRCh37
NC_000011.8:g.118468436G= NCBI36
NG_008093.1:g.12640G=

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.599G= ENSP00000509288.1:p.Arg200=
ENST00000691144.1:n.2745G=
ENST00000691249.1:n.1588G=
ENST00000442944.7:c.746G= ENSP00000392041.3:p.Arg249=
ENST00000640813.1:c.*1G= ENSP00000491061.1:n.*1G=
ENST00000648026.1:c.658G= ENSP00000498044.1:n.658G=
ENST00000648374.1:c.713G= ENSP00000497255.1:p.Arg238=
ENST00000649823.1:n.1221G=
ENST00000650101.1:c.695G= ENSP00000496970.1:p.Arg232=
ENST00000650307.1:n.1590G=
ENST00000652429.1:c.764G= MANE Select ENSP00000498786.1:p.Arg255=
ENST00000278715.7:c.764G= ENSP00000278715.3:p.Arg255=
ENST00000392841.1:c.713G= ENSP00000376584.1:p.Arg238=
ENST00000442944.6:c.713G= ENSP00000392041.2:p.Arg238=
ENST00000537841.5:c.713G= ENSP00000444730.1:p.Arg238=
ENST00000542044.5:n.1209G=
ENST00000542729.5:c.601-242G= ENSP00000443058.1:n.601-242G=
ENST00000543090.5:c.671G= ENSP00000445429.1:p.Arg224=
ENST00000543543.5:n.1239G=
ENST00000544182.1:n.979G=
ENST00000544387.5:c.652-242G= ENSP00000438424.1:n.652-242G=
ENST00000546226.5:n.1292G=
NM_000190.3:c.764G= NP_000181.2:p.Arg255=
NM_001024382.1:c.713G= NP_001019553.1:p.Arg238=
NM_001258208.1:c.652-242G= NP_001245137.1:n.652-242G=
NM_001258209.1:c.601-242G= NP_001245138.1:n.601-242G=
XM_005271531.1:c.713G= XP_005271588.1:p.Arg238=
XM_005271532.1:c.713G= XP_005271589.1:p.Arg238=
XM_005271533.2:c.710G= XP_005271590.1:p.Arg237=
XM_011542796.1:c.599G= XP_011541098.1:p.Arg200=
NM_000190.4:c.764G= MANE Select NP_000181.2:p.Arg255=
NM_001024382.2:c.713G= NP_001019553.1:p.Arg238=
XM_005271533.3:c.710G= XP_005271590.1:p.Arg237=
XM_017017629.1:c.713G= XP_016873118.1:p.Arg238=
XM_024448460.1:c.598-242G= XP_024304228.1:n.598-242G=
NM_001258208.2:c.652-242G= NP_001245137.1:n.652-242G=
NM_001258209.2:c.601-242G= NP_001245138.1:n.601-242G=