Canonical Allele Identifier: CA2003793377
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093177C= , CM000673.2:g.119093177C= GRCh38
NC_000011.9:g.118963887C= , CM000673.1:g.118963887C= GRCh37
NC_000011.8:g.118469097C= NCBI36
NG_008093.1:g.13301C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.815C= ENSP00000509288.1:p.Pro272=
ENST00000691144.1:n.3195C=
ENST00000691249.1:n.1804C=
ENST00000442944.7:c.962C= ENSP00000392041.3:p.Pro321=
ENST00000640813.1:c.*217C= ENSP00000491061.1:n.*217C=
ENST00000648026.1:c.874C= ENSP00000498044.1:n.874C=
ENST00000648374.1:c.929C= ENSP00000497255.1:p.Pro310=
ENST00000650101.1:c.911C= ENSP00000496970.1:p.Pro304=
ENST00000650307.1:n.1806C=
ENST00000652429.1:c.980C= MANE Select ENSP00000498786.1:p.Pro327=
ENST00000278715.7:c.980C= ENSP00000278715.3:p.Pro327=
ENST00000392841.1:c.929C= ENSP00000376584.1:p.Pro310=
ENST00000442944.6:c.929C= ENSP00000392041.2:p.Pro310=
ENST00000537841.5:c.929C= ENSP00000444730.1:p.Pro310=
ENST00000539045.1:n.479C=
ENST00000542044.5:n.1425C=
ENST00000542729.5:c.809C= ENSP00000443058.1:p.Pro270=
ENST00000543090.5:c.887C= ENSP00000445429.1:p.Pro296=
ENST00000543543.5:n.1455C=
ENST00000544182.1:n.1429C=
ENST00000544387.5:c.860C= ENSP00000438424.1:p.Pro287=
ENST00000546226.5:n.1742C=
NM_000190.3:c.980C= NP_000181.2:p.Pro327=
NM_001024382.1:c.929C= NP_001019553.1:p.Pro310=
NM_001258208.1:c.860C= NP_001245137.1:p.Pro287=
NM_001258209.1:c.809C= NP_001245138.1:p.Pro270=
XM_005271531.1:c.929C= XP_005271588.1:p.Pro310=
XM_005271532.1:c.929C= XP_005271589.1:p.Pro310=
XM_005271533.2:c.926C= XP_005271590.1:p.Pro309=
XM_011542796.1:c.815C= XP_011541098.1:p.Pro272=
NM_000190.4:c.980C= MANE Select NP_000181.2:p.Pro327=
NM_001024382.2:c.929C= NP_001019553.1:p.Pro310=
XM_005271533.3:c.926C= XP_005271590.1:p.Pro309=
XM_017017629.1:c.929C= XP_016873118.1:p.Pro310=
XM_024448460.1:c.806C= XP_024304228.1:p.Pro269=
NM_001258208.2:c.860C= NP_001245137.1:p.Pro287=
NM_001258209.2:c.809C= NP_001245138.1:p.Pro270=