Canonical Allele Identifier: CA2003793351
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093171G= , CM000673.2:g.119093171G= GRCh38
NC_000011.9:g.118963881G= , CM000673.1:g.118963881G= GRCh37
NC_000011.8:g.118469091G= NCBI36
NG_008093.1:g.13295G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.809G= ENSP00000509288.1:p.Arg270=
ENST00000691144.1:n.3189G=
ENST00000691249.1:n.1798G=
ENST00000442944.7:c.956G= ENSP00000392041.3:p.Arg319=
ENST00000640813.1:c.*211G= ENSP00000491061.1:n.*211G=
ENST00000648026.1:c.868G= ENSP00000498044.1:n.868G=
ENST00000648374.1:c.923G= ENSP00000497255.1:p.Arg308=
ENST00000650101.1:c.905G= ENSP00000496970.1:p.Arg302=
ENST00000650307.1:n.1800G=
ENST00000652429.1:c.974G= MANE Select ENSP00000498786.1:p.Arg325=
ENST00000278715.7:c.974G= ENSP00000278715.3:p.Arg325=
ENST00000392841.1:c.923G= ENSP00000376584.1:p.Arg308=
ENST00000442944.6:c.923G= ENSP00000392041.2:p.Arg308=
ENST00000537841.5:c.923G= ENSP00000444730.1:p.Arg308=
ENST00000539045.1:n.473G=
ENST00000542044.5:n.1419G=
ENST00000542729.5:c.803G= ENSP00000443058.1:p.Arg268=
ENST00000543090.5:c.881G= ENSP00000445429.1:p.Arg294=
ENST00000543543.5:n.1449G=
ENST00000544182.1:n.1423G=
ENST00000544387.5:c.854G= ENSP00000438424.1:p.Arg285=
ENST00000546226.5:n.1736G=
NM_000190.3:c.974G= NP_000181.2:p.Arg325=
NM_001024382.1:c.923G= NP_001019553.1:p.Arg308=
NM_001258208.1:c.854G= NP_001245137.1:p.Arg285=
NM_001258209.1:c.803G= NP_001245138.1:p.Arg268=
XM_005271531.1:c.923G= XP_005271588.1:p.Arg308=
XM_005271532.1:c.923G= XP_005271589.1:p.Arg308=
XM_005271533.2:c.920G= XP_005271590.1:p.Arg307=
XM_011542796.1:c.809G= XP_011541098.1:p.Arg270=
NM_000190.4:c.974G= MANE Select NP_000181.2:p.Arg325=
NM_001024382.2:c.923G= NP_001019553.1:p.Arg308=
XM_005271533.3:c.920G= XP_005271590.1:p.Arg307=
XM_017017629.1:c.923G= XP_016873118.1:p.Arg308=
XM_024448460.1:c.800G= XP_024304228.1:p.Arg267=
NM_001258208.2:c.854G= NP_001245137.1:p.Arg285=
NM_001258209.2:c.803G= NP_001245138.1:p.Arg268=