Canonical Allele Identifier: CA2003791775
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092505G= , CM000673.2:g.119092505G= GRCh38
NC_000011.9:g.118963215G= , CM000673.1:g.118963215G= GRCh37
NC_000011.8:g.118468425G= NCBI36
NG_008093.1:g.12629G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.588G= ENSP00000509288.1:p.Arg196=
ENST00000691144.1:n.2734G=
ENST00000691249.1:n.1577G=
ENST00000442944.7:c.735G= ENSP00000392041.3:p.Arg245=
ENST00000640813.1:c.563G= ENSP00000491061.1:p.Gly188=
ENST00000648026.1:c.647G= ENSP00000498044.1:p.Gly216=
ENST00000648374.1:c.702G= ENSP00000497255.1:p.Arg234=
ENST00000649823.1:n.1210G=
ENST00000650101.1:c.684G= ENSP00000496970.1:p.Arg228=
ENST00000650307.1:n.1579G=
ENST00000652429.1:c.753G= MANE Select ENSP00000498786.1:p.Arg251=
ENST00000278715.7:c.753G= ENSP00000278715.3:p.Arg251=
ENST00000392841.1:c.702G= ENSP00000376584.1:p.Arg234=
ENST00000442944.6:c.702G= ENSP00000392041.2:p.Arg234=
ENST00000537841.5:c.702G= ENSP00000444730.1:p.Arg234=
ENST00000542044.5:n.1198G=
ENST00000542729.5:c.601-253G= ENSP00000443058.1:n.601-253G=
ENST00000543090.5:c.660G= ENSP00000445429.1:p.Arg220=
ENST00000543543.5:n.1228G=
ENST00000544182.1:n.968G=
ENST00000544387.5:c.652-253G= ENSP00000438424.1:n.652-253G=
ENST00000546226.5:n.1281G=
NM_000190.3:c.753G= NP_000181.2:p.Arg251=
NM_001024382.1:c.702G= NP_001019553.1:p.Arg234=
NM_001258208.1:c.652-253G= NP_001245137.1:n.652-253G=
NM_001258209.1:c.601-253G= NP_001245138.1:n.601-253G=
XM_005271531.1:c.702G= XP_005271588.1:p.Arg234=
XM_005271532.1:c.702G= XP_005271589.1:p.Arg234=
XM_005271533.2:c.699G= XP_005271590.1:p.Arg233=
XM_011542796.1:c.588G= XP_011541098.1:p.Arg196=
NM_000190.4:c.753G= MANE Select NP_000181.2:p.Arg251=
NM_001024382.2:c.702G= NP_001019553.1:p.Arg234=
XM_005271533.3:c.699G= XP_005271590.1:p.Arg233=
XM_017017629.1:c.702G= XP_016873118.1:p.Arg234=
XM_024448460.1:c.598-253G= XP_024304228.1:n.598-253G=
NM_001258208.2:c.652-253G= NP_001245137.1:n.652-253G=
NM_001258209.2:c.601-253G= NP_001245138.1:n.601-253G=