Canonical Allele Identifier: CA2003792882
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093000T= , CM000673.2:g.119093000T= GRCh38
NC_000011.9:g.118963710T= , CM000673.1:g.118963710T= GRCh37
NC_000011.8:g.118468920T= NCBI36
NG_008093.1:g.13124T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.726T= ENSP00000509288.1:p.Ala242=
ENST00000691144.1:n.3106T=
ENST00000691249.1:n.1715T=
ENST00000442944.7:c.873T= ENSP00000392041.3:p.Ala291=
ENST00000640813.1:c.*128T= ENSP00000491061.1:n.*128T=
ENST00000648026.1:c.785T= ENSP00000498044.1:n.785T=
ENST00000648374.1:c.840T= ENSP00000497255.1:p.Ala280=
ENST00000650101.1:c.822T= ENSP00000496970.1:p.Ala274=
ENST00000650307.1:n.1717T=
ENST00000652429.1:c.891T= MANE Select ENSP00000498786.1:p.Ala297=
ENST00000278715.7:c.891T= ENSP00000278715.3:p.Ala297=
ENST00000392841.1:c.840T= ENSP00000376584.1:p.Ala280=
ENST00000442944.6:c.840T= ENSP00000392041.2:p.Ala280=
ENST00000537841.5:c.840T= ENSP00000444730.1:p.Ala280=
ENST00000539045.1:n.390T=
ENST00000542044.5:n.1336T=
ENST00000542729.5:c.720T= ENSP00000443058.1:p.Ala240=
ENST00000543090.5:c.798T= ENSP00000445429.1:p.Ala266=
ENST00000543543.5:n.1366T=
ENST00000544182.1:n.1340T=
ENST00000544387.5:c.771T= ENSP00000438424.1:p.Ala257=
ENST00000546226.5:n.1653T=
NM_000190.3:c.891T= NP_000181.2:p.Ala297=
NM_001024382.1:c.840T= NP_001019553.1:p.Ala280=
NM_001258208.1:c.771T= NP_001245137.1:p.Ala257=
NM_001258209.1:c.720T= NP_001245138.1:p.Ala240=
XM_005271531.1:c.840T= XP_005271588.1:p.Ala280=
XM_005271532.1:c.840T= XP_005271589.1:p.Ala280=
XM_005271533.2:c.837T= XP_005271590.1:p.Ala279=
XM_011542796.1:c.726T= XP_011541098.1:p.Ala242=
NM_000190.4:c.891T= MANE Select NP_000181.2:p.Ala297=
NM_001024382.2:c.840T= NP_001019553.1:p.Ala280=
XM_005271533.3:c.837T= XP_005271590.1:p.Ala279=
XM_017017629.1:c.840T= XP_016873118.1:p.Ala280=
XM_024448460.1:c.717T= XP_024304228.1:p.Ala239=
NM_001258208.2:c.771T= NP_001245137.1:p.Ala257=
NM_001258209.2:c.720T= NP_001245138.1:p.Ala240=