Canonical Allele Identifier: CA2003793467
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093231A= , CM000673.2:g.119093231A= GRCh38
NC_000011.9:g.118963941A= , CM000673.1:g.118963941A= GRCh37
NC_000011.8:g.118469151A= NCBI36
NG_008093.1:g.13355A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.869A= ENSP00000509288.1:p.Lys290=
ENST00000691144.1:n.3249A=
ENST00000691249.1:n.1858A=
ENST00000442944.7:c.1016A= ENSP00000392041.3:p.Lys339=
ENST00000640813.1:c.*271A= ENSP00000491061.1:n.*271A=
ENST00000648026.1:c.928A= ENSP00000498044.1:n.928A=
ENST00000648374.1:c.983A= ENSP00000497255.1:p.Lys328=
ENST00000650101.1:c.965A= ENSP00000496970.1:p.Lys322=
ENST00000650307.1:n.1860A=
ENST00000652429.1:c.1034A= MANE Select ENSP00000498786.1:p.Lys345=
ENST00000278715.7:c.1034A= ENSP00000278715.3:p.Lys345=
ENST00000392841.1:c.983A= ENSP00000376584.1:p.Lys328=
ENST00000442944.6:c.983A= ENSP00000392041.2:p.Lys328=
ENST00000537841.5:c.983A= ENSP00000444730.1:p.Lys328=
ENST00000539045.1:n.533A=
ENST00000542044.5:n.1479A=
ENST00000542729.5:c.863A= ENSP00000443058.1:p.Lys288=
ENST00000543090.5:c.941A= ENSP00000445429.1:p.Lys314=
ENST00000543543.5:n.1509A=
ENST00000544182.1:n.1483A=
ENST00000544387.5:c.914A= ENSP00000438424.1:p.Lys305=
ENST00000546226.5:n.1796A=
NM_000190.3:c.1034A= NP_000181.2:p.Lys345=
NM_001024382.1:c.983A= NP_001019553.1:p.Lys328=
NM_001258208.1:c.914A= NP_001245137.1:p.Lys305=
NM_001258209.1:c.863A= NP_001245138.1:p.Lys288=
XM_005271531.1:c.983A= XP_005271588.1:p.Lys328=
XM_005271532.1:c.983A= XP_005271589.1:p.Lys328=
XM_005271533.2:c.980A= XP_005271590.1:p.Lys327=
XM_011542796.1:c.869A= XP_011541098.1:p.Lys290=
NM_000190.4:c.1034A= MANE Select NP_000181.2:p.Lys345=
NM_001024382.2:c.983A= NP_001019553.1:p.Lys328=
XM_005271533.3:c.980A= XP_005271590.1:p.Lys327=
XM_017017629.1:c.983A= XP_016873118.1:p.Lys328=
XM_024448460.1:c.860A= XP_024304228.1:p.Lys287=
NM_001258208.2:c.914A= NP_001245137.1:p.Lys305=
NM_001258209.2:c.863A= NP_001245138.1:p.Lys288=