Canonical Allele Identifier: CA2003792756
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092967C= , CM000673.2:g.119092967C= GRCh38
NC_000011.9:g.118963677C= , CM000673.1:g.118963677C= GRCh37
NC_000011.8:g.118468887C= NCBI36
NG_008093.1:g.13091C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.693C= ENSP00000509288.1:p.Asp231=
ENST00000691144.1:n.3073C=
ENST00000691249.1:n.1682C=
ENST00000442944.7:c.840C= ENSP00000392041.3:p.Asp280=
ENST00000640813.1:c.*95C= ENSP00000491061.1:n.*95C=
ENST00000648026.1:c.752C= ENSP00000498044.1:n.752C=
ENST00000648374.1:c.807C= ENSP00000497255.1:p.Asp269=
ENST00000650101.1:c.789C= ENSP00000496970.1:p.Asp263=
ENST00000650307.1:n.1684C=
ENST00000652429.1:c.858C= MANE Select ENSP00000498786.1:p.Asp286=
ENST00000278715.7:c.858C= ENSP00000278715.3:p.Asp286=
ENST00000392841.1:c.807C= ENSP00000376584.1:p.Asp269=
ENST00000442944.6:c.807C= ENSP00000392041.2:p.Asp269=
ENST00000537841.5:c.807C= ENSP00000444730.1:p.Asp269=
ENST00000539045.1:n.357C=
ENST00000542044.5:n.1303C=
ENST00000542729.5:c.687C= ENSP00000443058.1:p.Asp229=
ENST00000543090.5:c.765C= ENSP00000445429.1:p.Asp255=
ENST00000543543.5:n.1333C=
ENST00000544182.1:n.1307C=
ENST00000544387.5:c.738C= ENSP00000438424.1:p.Asp246=
ENST00000546226.5:n.1620C=
NM_000190.3:c.858C= NP_000181.2:p.Asp286=
NM_001024382.1:c.807C= NP_001019553.1:p.Asp269=
NM_001258208.1:c.738C= NP_001245137.1:p.Asp246=
NM_001258209.1:c.687C= NP_001245138.1:p.Asp229=
XM_005271531.1:c.807C= XP_005271588.1:p.Asp269=
XM_005271532.1:c.807C= XP_005271589.1:p.Asp269=
XM_005271533.2:c.804C= XP_005271590.1:p.Asp268=
XM_011542796.1:c.693C= XP_011541098.1:p.Asp231=
NM_000190.4:c.858C= MANE Select NP_000181.2:p.Asp286=
NM_001024382.2:c.807C= NP_001019553.1:p.Asp269=
XM_005271533.3:c.804C= XP_005271590.1:p.Asp268=
XM_017017629.1:c.807C= XP_016873118.1:p.Asp269=
XM_024448460.1:c.684C= XP_024304228.1:p.Asp228=
NM_001258208.2:c.738C= NP_001245137.1:p.Asp246=
NM_001258209.2:c.687C= NP_001245138.1:p.Asp229=