Canonical Allele Identifier: CA2003791707
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092491T= , CM000673.2:g.119092491T= GRCh38
NC_000011.9:g.118963201T= , CM000673.1:g.118963201T= GRCh37
NC_000011.8:g.118468411T= NCBI36
NG_008093.1:g.12615T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.574T= ENSP00000509288.1:p.Cys192=
ENST00000691144.1:n.2720T=
ENST00000691249.1:n.1563T=
ENST00000442944.7:c.721T= ENSP00000392041.3:p.Cys241=
ENST00000640813.1:c.549T= ENSP00000491061.1:p.Ala183=
ENST00000648026.1:c.633T= ENSP00000498044.1:p.Ala211=
ENST00000648374.1:c.688T= ENSP00000497255.1:p.Cys230=
ENST00000649823.1:n.1196T=
ENST00000650101.1:c.670T= ENSP00000496970.1:p.Cys224=
ENST00000650307.1:n.1565T=
ENST00000652429.1:c.739T= MANE Select ENSP00000498786.1:p.Cys247=
ENST00000278715.7:c.739T= ENSP00000278715.3:p.Cys247=
ENST00000392841.1:c.688T= ENSP00000376584.1:p.Cys230=
ENST00000442944.6:c.688T= ENSP00000392041.2:p.Cys230=
ENST00000537841.5:c.688T= ENSP00000444730.1:p.Cys230=
ENST00000542044.5:n.1184T=
ENST00000542729.5:c.601-267T= ENSP00000443058.1:n.601-267T=
ENST00000543090.5:c.646T= ENSP00000445429.1:p.Cys216=
ENST00000543543.5:n.1214T=
ENST00000544182.1:n.954T=
ENST00000544387.5:c.652-267T= ENSP00000438424.1:n.652-267T=
ENST00000545621.5:c.*874T= ENSP00000444849.1:n.*874T=
ENST00000546226.5:n.1267T=
NM_000190.3:c.739T= NP_000181.2:p.Cys247=
NM_001024382.1:c.688T= NP_001019553.1:p.Cys230=
NM_001258208.1:c.652-267T= NP_001245137.1:n.652-267T=
NM_001258209.1:c.601-267T= NP_001245138.1:n.601-267T=
XM_005271531.1:c.688T= XP_005271588.1:p.Cys230=
XM_005271532.1:c.688T= XP_005271589.1:p.Cys230=
XM_005271533.2:c.685T= XP_005271590.1:p.Cys229=
XM_011542796.1:c.574T= XP_011541098.1:p.Cys192=
NM_000190.4:c.739T= MANE Select NP_000181.2:p.Cys247=
NM_001024382.2:c.688T= NP_001019553.1:p.Cys230=
XM_005271533.3:c.685T= XP_005271590.1:p.Cys229=
XM_017017629.1:c.688T= XP_016873118.1:p.Cys230=
XM_024448460.1:c.598-267T= XP_024304228.1:n.598-267T=
NM_001258208.2:c.652-267T= NP_001245137.1:n.652-267T=
NM_001258209.2:c.601-267T= NP_001245138.1:n.601-267T=