Canonical Allele Identifier: CA2003791791
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092512C= , CM000673.2:g.119092512C= GRCh38
NC_000011.9:g.118963222C= , CM000673.1:g.118963222C= GRCh37
NC_000011.8:g.118468432C= NCBI36
NG_008093.1:g.12636C=

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.595C= ENSP00000509288.1:p.Leu199=
ENST00000691144.1:n.2741C=
ENST00000691249.1:n.1584C=
ENST00000442944.7:c.742C= ENSP00000392041.3:p.Leu248=
ENST00000640813.1:c.570C= ENSP00000491061.1:p.Ser190=
ENST00000648026.1:c.654C= ENSP00000498044.1:p.Ser218=
ENST00000648374.1:c.709C= ENSP00000497255.1:p.Leu237=
ENST00000649823.1:n.1217C=
ENST00000650101.1:c.691C= ENSP00000496970.1:p.Leu231=
ENST00000650307.1:n.1586C=
ENST00000652429.1:c.760C= MANE Select ENSP00000498786.1:p.Leu254=
ENST00000278715.7:c.760C= ENSP00000278715.3:p.Leu254=
ENST00000392841.1:c.709C= ENSP00000376584.1:p.Leu237=
ENST00000442944.6:c.709C= ENSP00000392041.2:p.Leu237=
ENST00000537841.5:c.709C= ENSP00000444730.1:p.Leu237=
ENST00000542044.5:n.1205C=
ENST00000542729.5:c.601-246C= ENSP00000443058.1:n.601-246C=
ENST00000543090.5:c.667C= ENSP00000445429.1:p.Leu223=
ENST00000543543.5:n.1235C=
ENST00000544182.1:n.975C=
ENST00000544387.5:c.652-246C= ENSP00000438424.1:n.652-246C=
ENST00000546226.5:n.1288C=
NM_000190.3:c.760C= NP_000181.2:p.Leu254=
NM_001024382.1:c.709C= NP_001019553.1:p.Leu237=
NM_001258208.1:c.652-246C= NP_001245137.1:n.652-246C=
NM_001258209.1:c.601-246C= NP_001245138.1:n.601-246C=
XM_005271531.1:c.709C= XP_005271588.1:p.Leu237=
XM_005271532.1:c.709C= XP_005271589.1:p.Leu237=
XM_005271533.2:c.706C= XP_005271590.1:p.Leu236=
XM_011542796.1:c.595C= XP_011541098.1:p.Leu199=
NM_000190.4:c.760C= MANE Select NP_000181.2:p.Leu254=
NM_001024382.2:c.709C= NP_001019553.1:p.Leu237=
XM_005271533.3:c.706C= XP_005271590.1:p.Leu236=
XM_017017629.1:c.709C= XP_016873118.1:p.Leu237=
XM_024448460.1:c.598-246C= XP_024304228.1:n.598-246C=
NM_001258208.2:c.652-246C= NP_001245137.1:n.652-246C=
NM_001258209.2:c.601-246C= NP_001245138.1:n.601-246C=