Canonical Allele Identifier: CA2003791766
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092502A= , CM000673.2:g.119092502A= GRCh38
NC_000011.9:g.118963212A= , CM000673.1:g.118963212A= GRCh37
NC_000011.8:g.118468422A= NCBI36
NG_008093.1:g.12626A=

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.585A= ENSP00000509288.1:p.Glu195=
ENST00000691144.1:n.2731A=
ENST00000691249.1:n.1574A=
ENST00000442944.7:c.732A= ENSP00000392041.3:p.Glu244=
ENST00000640813.1:c.560A= ENSP00000491061.1:p.Lys187=
ENST00000648026.1:c.644A= ENSP00000498044.1:p.Lys215=
ENST00000648374.1:c.699A= ENSP00000497255.1:p.Glu233=
ENST00000649823.1:n.1207A=
ENST00000650101.1:c.681A= ENSP00000496970.1:p.Glu227=
ENST00000650307.1:n.1576A=
ENST00000652429.1:c.750A= MANE Select ENSP00000498786.1:p.Glu250=
ENST00000278715.7:c.750A= ENSP00000278715.3:p.Glu250=
ENST00000392841.1:c.699A= ENSP00000376584.1:p.Glu233=
ENST00000442944.6:c.699A= ENSP00000392041.2:p.Glu233=
ENST00000537841.5:c.699A= ENSP00000444730.1:p.Glu233=
ENST00000542044.5:n.1195A=
ENST00000542729.5:c.601-256A= ENSP00000443058.1:n.601-256A=
ENST00000543090.5:c.657A= ENSP00000445429.1:p.Glu219=
ENST00000543543.5:n.1225A=
ENST00000544182.1:n.965A=
ENST00000544387.5:c.652-256A= ENSP00000438424.1:n.652-256A=
ENST00000546226.5:n.1278A=
NM_000190.3:c.750A= NP_000181.2:p.Glu250=
NM_001024382.1:c.699A= NP_001019553.1:p.Glu233=
NM_001258208.1:c.652-256A= NP_001245137.1:n.652-256A=
NM_001258209.1:c.601-256A= NP_001245138.1:n.601-256A=
XM_005271531.1:c.699A= XP_005271588.1:p.Glu233=
XM_005271532.1:c.699A= XP_005271589.1:p.Glu233=
XM_005271533.2:c.696A= XP_005271590.1:p.Glu232=
XM_011542796.1:c.585A= XP_011541098.1:p.Glu195=
NM_000190.4:c.750A= MANE Select NP_000181.2:p.Glu250=
NM_001024382.2:c.699A= NP_001019553.1:p.Glu233=
XM_005271533.3:c.696A= XP_005271590.1:p.Glu232=
XM_017017629.1:c.699A= XP_016873118.1:p.Glu233=
XM_024448460.1:c.598-256A= XP_024304228.1:n.598-256A=
NM_001258208.2:c.652-256A= NP_001245137.1:n.652-256A=
NM_001258209.2:c.601-256A= NP_001245138.1:n.601-256A=