Canonical Allele Identifier: CA2003782907
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119089991C= , CM000673.2:g.119089991C= GRCh38
NC_000011.9:g.118960701C= , CM000673.1:g.118960701C= GRCh37
NC_000011.8:g.118465911C= NCBI36
NG_008093.1:g.10115C=

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.346C= MANE Select NP_000181.2:p.Arg116=
ENST00000652429.1:c.346C= MANE Select ENSP00000498786.1:p.Arg116=
NM_000190.3:c.346C= NP_000181.2:p.Arg116=
NM_001024382.1:c.295C= NP_001019553.1:p.Arg99=
NM_001024382.2:c.295C= NP_001019553.1:p.Arg99=
NM_001258208.1:c.346C= NP_001245137.1:p.Arg116=
NM_001258208.2:c.346C= NP_001245137.1:p.Arg116=
NM_001258209.1:c.295C= NP_001245138.1:p.Arg99=
NM_001258209.2:c.295C= NP_001245138.1:p.Arg99=
ENST00000278715.7:c.346C= ENSP00000278715.3:p.Arg116=
ENST00000392841.1:c.295C= ENSP00000376584.1:p.Arg99=
ENST00000442944.6:c.295C= ENSP00000392041.2:p.Arg99=
ENST00000442944.7:c.328C= ENSP00000392041.3:p.Arg110=
ENST00000534956.1:n.262C=
ENST00000534956.2:n.295C=
ENST00000535253.5:c.295C= ENSP00000442079.1:p.Arg99=
ENST00000535793.5:c.*241C= ENSP00000439904.1:n.*241C=
ENST00000536813.5:c.328C= ENSP00000438726.1:p.Arg110=
ENST00000536813.6:c.295C= ENSP00000438726.2:p.Arg99=
ENST00000537841.5:c.295C= ENSP00000444730.1:p.Arg99=
ENST00000539986.5:c.295C= ENSP00000440092.1:p.Arg99=
ENST00000542044.5:n.791C=
ENST00000542345.5:n.484C=
ENST00000542729.5:c.295C= ENSP00000443058.1:p.Arg99=
ENST00000542822.5:c.*282C= ENSP00000444817.1:n.*282C=
ENST00000543090.5:c.292C= ENSP00000445429.1:p.Arg98=
ENST00000543543.5:n.581C=
ENST00000543821.5:n.507C=
ENST00000544360.5:n.314C=
ENST00000544387.5:c.346C= ENSP00000438424.1:p.Arg116=
ENST00000545621.5:c.*241C= ENSP00000444849.1:n.*241C=
ENST00000546226.5:n.634C=
ENST00000546302.5:c.268C= ENSP00000445599.1:p.Arg90=
ENST00000546302.6:c.268C= ENSP00000445599.1:p.Arg90=
ENST00000640813.1:c.295C= ENSP00000491061.1:p.Arg99=
ENST00000648026.1:c.340C= ENSP00000498044.1:p.Arg114=
ENST00000648374.1:c.295C= ENSP00000497255.1:p.Arg99=
ENST00000648488.1:c.295C= ENSP00000498079.1:p.Arg99=
ENST00000649823.1:n.563C=
ENST00000649868.1:c.*54C= ENSP00000497548.1:n.*54C=
ENST00000650101.1:c.277C= ENSP00000496970.1:p.Arg93=
ENST00000650307.1:n.1172C=
ENST00000686218.1:c.181C= ENSP00000509288.1:p.Arg61=
ENST00000686690.1:n.1196C=
ENST00000691144.1:n.2087C=
ENST00000691249.1:n.930C=
XM_005271531.1:c.295C= XP_005271588.1:p.Arg99=
XM_005271532.1:c.295C= XP_005271589.1:p.Arg99=
XM_005271533.2:c.292C= XP_005271590.1:p.Arg98=
XM_005271533.3:c.292C= XP_005271590.1:p.Arg98=
XM_011542796.1:c.181C= XP_011541098.1:p.Arg61=
XM_017017629.1:c.295C= XP_016873118.1:p.Arg99=
XM_024448460.1:c.292C= XP_024304228.1:p.Arg98=