Canonical Allele Identifier: CA2003783010
Community Standard Title: NM_000190.4(HMBS):c.463C= (p.Gln155=)
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119090230C= , CM000673.2:g.119090230C= GRCh38
NC_000011.9:g.118960940C= , CM000673.1:g.118960940C= GRCh37
NC_000011.8:g.118466150C= NCBI36
NG_008093.1:g.10354C=

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.463C= MANE Select NP_000181.2:p.Gln155=
ENST00000652429.1:c.463C= MANE Select ENSP00000498786.1:p.Gln155=
NM_000190.3:c.463C= NP_000181.2:p.Gln155=
NM_001024382.1:c.412C= NP_001019553.1:p.Gln138=
NM_001024382.2:c.412C= NP_001019553.1:p.Gln138=
NM_001258208.1:c.463C= NP_001245137.1:p.Gln155=
NM_001258208.2:c.463C= NP_001245137.1:p.Gln155=
NM_001258209.1:c.412C= NP_001245138.1:p.Gln138=
NM_001258209.2:c.412C= NP_001245138.1:p.Gln138=
ENST00000278715.7:c.463C= ENSP00000278715.3:p.Gln155=
ENST00000392841.1:c.412C= ENSP00000376584.1:p.Gln138=
ENST00000442944.6:c.412C= ENSP00000392041.2:p.Gln138=
ENST00000442944.7:c.445C= ENSP00000392041.3:p.Gln149=
ENST00000534956.1:n.379C=
ENST00000534956.2:n.412C=
ENST00000535253.5:c.412C= ENSP00000442079.1:p.Gln138=
ENST00000535793.5:c.*358C= ENSP00000439904.1:n.*358C=
ENST00000536813.6:c.412C= ENSP00000438726.2:p.Gln138=
ENST00000537841.5:c.412C= ENSP00000444730.1:p.Gln138=
ENST00000539986.5:c.412C= ENSP00000440092.1:p.Gln138=
ENST00000542044.5:n.908C=
ENST00000542345.5:n.601C=
ENST00000542729.5:c.412C= ENSP00000443058.1:p.Gln138=
ENST00000542822.5:c.*399C= ENSP00000444817.1:n.*399C=
ENST00000543090.5:c.409C= ENSP00000445429.1:p.Gln137=
ENST00000543543.5:n.698C=
ENST00000544360.5:n.431C=
ENST00000544387.5:c.463C= ENSP00000438424.1:p.Gln155=
ENST00000545621.5:c.*358C= ENSP00000444849.1:n.*358C=
ENST00000546226.5:n.751C=
ENST00000546302.5:c.385C= ENSP00000445599.1:p.Gln129=
ENST00000546302.6:c.385C= ENSP00000445599.1:p.Gln129=
ENST00000640813.1:c.412C= ENSP00000491061.1:p.Gln138=
ENST00000648026.1:c.457C= ENSP00000498044.1:p.Gln153=
ENST00000648374.1:c.412C= ENSP00000497255.1:p.Gln138=
ENST00000648488.1:c.412C= ENSP00000498079.1:p.Gln138=
ENST00000649823.1:n.680C=
ENST00000649868.1:c.*171C= ENSP00000497548.1:n.*171C=
ENST00000650101.1:c.394C= ENSP00000496970.1:p.Gln132=
ENST00000650307.1:n.1289C=
ENST00000686218.1:c.298C= ENSP00000509288.1:p.Gln100=
ENST00000686690.1:n.1313C=
ENST00000691144.1:n.2204C=
ENST00000691249.1:n.1047C=
XM_005271531.1:c.412C= XP_005271588.1:p.Gln138=
XM_005271532.1:c.412C= XP_005271589.1:p.Gln138=
XM_005271533.2:c.409C= XP_005271590.1:p.Gln137=
XM_005271533.3:c.409C= XP_005271590.1:p.Gln137=
XM_011542796.1:c.298C= XP_011541098.1:p.Gln100=
XM_017017629.1:c.412C= XP_016873118.1:p.Gln138=
XM_024448460.1:c.409C= XP_024304228.1:p.Gln137=