Canonical Allele Identifier: CA2003793250
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093131G= , CM000673.2:g.119093131G= GRCh38
NC_000011.9:g.118963841G= , CM000673.1:g.118963841G= GRCh37
NC_000011.8:g.118469051G= NCBI36
NG_008093.1:g.13255G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.769G= ENSP00000509288.1:p.Asp257=
ENST00000691144.1:n.3149G=
ENST00000691249.1:n.1758G=
ENST00000442944.7:c.916G= ENSP00000392041.3:p.Asp306=
ENST00000640813.1:c.*171G= ENSP00000491061.1:n.*171G=
ENST00000648026.1:c.828G= ENSP00000498044.1:n.828G=
ENST00000648374.1:c.883G= ENSP00000497255.1:p.Asp295=
ENST00000650101.1:c.865G= ENSP00000496970.1:p.Asp289=
ENST00000650307.1:n.1760G=
ENST00000652429.1:c.934G= MANE Select ENSP00000498786.1:p.Asp312=
ENST00000278715.7:c.934G= ENSP00000278715.3:p.Asp312=
ENST00000392841.1:c.883G= ENSP00000376584.1:p.Asp295=
ENST00000442944.6:c.883G= ENSP00000392041.2:p.Asp295=
ENST00000537841.5:c.883G= ENSP00000444730.1:p.Asp295=
ENST00000539045.1:n.433G=
ENST00000542044.5:n.1379G=
ENST00000542729.5:c.763G= ENSP00000443058.1:p.Asp255=
ENST00000543090.5:c.841G= ENSP00000445429.1:p.Asp281=
ENST00000543543.5:n.1409G=
ENST00000544182.1:n.1383G=
ENST00000544387.5:c.814G= ENSP00000438424.1:p.Asp272=
ENST00000546226.5:n.1696G=
NM_000190.3:c.934G= NP_000181.2:p.Asp312=
NM_001024382.1:c.883G= NP_001019553.1:p.Asp295=
NM_001258208.1:c.814G= NP_001245137.1:p.Asp272=
NM_001258209.1:c.763G= NP_001245138.1:p.Asp255=
XM_005271531.1:c.883G= XP_005271588.1:p.Asp295=
XM_005271532.1:c.883G= XP_005271589.1:p.Asp295=
XM_005271533.2:c.880G= XP_005271590.1:p.Asp294=
XM_011542796.1:c.769G= XP_011541098.1:p.Asp257=
NM_000190.4:c.934G= MANE Select NP_000181.2:p.Asp312=
NM_001024382.2:c.883G= NP_001019553.1:p.Asp295=
XM_005271533.3:c.880G= XP_005271590.1:p.Asp294=
XM_017017629.1:c.883G= XP_016873118.1:p.Asp295=
XM_024448460.1:c.760G= XP_024304228.1:p.Asp254=
NM_001258208.2:c.814G= NP_001245137.1:p.Asp272=
NM_001258209.2:c.763G= NP_001245138.1:p.Asp255=