Canonical Allele Identifier: CA2003792763
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092970C= , CM000673.2:g.119092970C= GRCh38
NC_000011.9:g.118963680C= , CM000673.1:g.118963680C= GRCh37
NC_000011.8:g.118468890C= NCBI36
NG_008093.1:g.13094C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.696C= ENSP00000509288.1:p.Gly232=
ENST00000691144.1:n.3076C=
ENST00000691249.1:n.1685C=
ENST00000442944.7:c.843C= ENSP00000392041.3:p.Gly281=
ENST00000640813.1:c.*98C= ENSP00000491061.1:n.*98C=
ENST00000648026.1:c.755C= ENSP00000498044.1:n.755C=
ENST00000648374.1:c.810C= ENSP00000497255.1:p.Gly270=
ENST00000650101.1:c.792C= ENSP00000496970.1:p.Gly264=
ENST00000650307.1:n.1687C=
ENST00000652429.1:c.861C= MANE Select ENSP00000498786.1:p.Gly287=
ENST00000278715.7:c.861C= ENSP00000278715.3:p.Gly287=
ENST00000392841.1:c.810C= ENSP00000376584.1:p.Gly270=
ENST00000442944.6:c.810C= ENSP00000392041.2:p.Gly270=
ENST00000537841.5:c.810C= ENSP00000444730.1:p.Gly270=
ENST00000539045.1:n.360C=
ENST00000542044.5:n.1306C=
ENST00000542729.5:c.690C= ENSP00000443058.1:p.Gly230=
ENST00000543090.5:c.768C= ENSP00000445429.1:p.Gly256=
ENST00000543543.5:n.1336C=
ENST00000544182.1:n.1310C=
ENST00000544387.5:c.741C= ENSP00000438424.1:p.Gly247=
ENST00000546226.5:n.1623C=
NM_000190.3:c.861C= NP_000181.2:p.Gly287=
NM_001024382.1:c.810C= NP_001019553.1:p.Gly270=
NM_001258208.1:c.741C= NP_001245137.1:p.Gly247=
NM_001258209.1:c.690C= NP_001245138.1:p.Gly230=
XM_005271531.1:c.810C= XP_005271588.1:p.Gly270=
XM_005271532.1:c.810C= XP_005271589.1:p.Gly270=
XM_005271533.2:c.807C= XP_005271590.1:p.Gly269=
XM_011542796.1:c.696C= XP_011541098.1:p.Gly232=
NM_000190.4:c.861C= MANE Select NP_000181.2:p.Gly287=
NM_001024382.2:c.810C= NP_001019553.1:p.Gly270=
XM_005271533.3:c.807C= XP_005271590.1:p.Gly269=
XM_017017629.1:c.810C= XP_016873118.1:p.Gly270=
XM_024448460.1:c.687C= XP_024304228.1:p.Gly229=
NM_001258208.2:c.741C= NP_001245137.1:p.Gly247=
NM_001258209.2:c.690C= NP_001245138.1:p.Gly230=