Canonical Allele Identifier: CA2003793312
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093158C= , CM000673.2:g.119093158C= GRCh38
NC_000011.9:g.118963868C= , CM000673.1:g.118963868C= GRCh37
NC_000011.8:g.118469078C= NCBI36
NG_008093.1:g.13282C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.796C= ENSP00000509288.1:p.Arg266=
ENST00000691144.1:n.3176C=
ENST00000691249.1:n.1785C=
ENST00000442944.7:c.943C= ENSP00000392041.3:p.Arg315=
ENST00000640813.1:c.*198C= ENSP00000491061.1:n.*198C=
ENST00000648026.1:c.855C= ENSP00000498044.1:n.855C=
ENST00000648374.1:c.910C= ENSP00000497255.1:p.Arg304=
ENST00000650101.1:c.892C= ENSP00000496970.1:p.Arg298=
ENST00000650307.1:n.1787C=
ENST00000652429.1:c.961C= MANE Select ENSP00000498786.1:p.Arg321=
ENST00000278715.7:c.961C= ENSP00000278715.3:p.Arg321=
ENST00000392841.1:c.910C= ENSP00000376584.1:p.Arg304=
ENST00000442944.6:c.910C= ENSP00000392041.2:p.Arg304=
ENST00000537841.5:c.910C= ENSP00000444730.1:p.Arg304=
ENST00000539045.1:n.460C=
ENST00000542044.5:n.1406C=
ENST00000542729.5:c.790C= ENSP00000443058.1:p.Arg264=
ENST00000543090.5:c.868C= ENSP00000445429.1:p.Arg290=
ENST00000543543.5:n.1436C=
ENST00000544182.1:n.1410C=
ENST00000544387.5:c.841C= ENSP00000438424.1:p.Arg281=
ENST00000546226.5:n.1723C=
NM_000190.3:c.961C= NP_000181.2:p.Arg321=
NM_001024382.1:c.910C= NP_001019553.1:p.Arg304=
NM_001258208.1:c.841C= NP_001245137.1:p.Arg281=
NM_001258209.1:c.790C= NP_001245138.1:p.Arg264=
XM_005271531.1:c.910C= XP_005271588.1:p.Arg304=
XM_005271532.1:c.910C= XP_005271589.1:p.Arg304=
XM_005271533.2:c.907C= XP_005271590.1:p.Arg303=
XM_011542796.1:c.796C= XP_011541098.1:p.Arg266=
NM_000190.4:c.961C= MANE Select NP_000181.2:p.Arg321=
NM_001024382.2:c.910C= NP_001019553.1:p.Arg304=
XM_005271533.3:c.907C= XP_005271590.1:p.Arg303=
XM_017017629.1:c.910C= XP_016873118.1:p.Arg304=
XM_024448460.1:c.787C= XP_024304228.1:p.Arg263=
NM_001258208.2:c.841C= NP_001245137.1:p.Arg281=
NM_001258209.2:c.790C= NP_001245138.1:p.Arg264=