Canonical Allele Identifier: CA2003790871
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092133C= , CM000673.2:g.119092133C= GRCh38
NC_000011.9:g.118962843C= , CM000673.1:g.118962843C= GRCh37
NC_000011.8:g.118468053C= NCBI36
NG_008093.1:g.12257C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.456C= ENSP00000509288.1:p.His152=
ENST00000691144.1:n.2362C=
ENST00000691249.1:n.1205C=
ENST00000442944.7:c.603C= ENSP00000392041.3:p.His201=
ENST00000536813.6:c.570C= ENSP00000438726.2:p.His190=
ENST00000546302.6:c.543C= ENSP00000445599.1:p.His181=
ENST00000640813.1:c.461+259C= ENSP00000491061.1:n.461+259C=
ENST00000648026.1:c.515C= ENSP00000498044.1:p.Thr172=
ENST00000648374.1:c.570C= ENSP00000497255.1:p.His190=
ENST00000648488.1:c.*94C= ENSP00000498079.1:n.*94C=
ENST00000649823.1:n.838C=
ENST00000650101.1:c.552C= ENSP00000496970.1:p.His184=
ENST00000650307.1:n.1447C=
ENST00000652429.1:c.621C= MANE Select ENSP00000498786.1:p.His207=
ENST00000278715.7:c.621C= ENSP00000278715.3:p.His207=
ENST00000392841.1:c.570C= ENSP00000376584.1:p.His190=
ENST00000442944.6:c.570C= ENSP00000392041.2:p.His190=
ENST00000537841.5:c.570C= ENSP00000444730.1:p.His190=
ENST00000542044.5:n.1066C=
ENST00000542345.5:n.759C=
ENST00000542729.5:c.570C= ENSP00000443058.1:p.His190=
ENST00000543090.5:c.559-271C= ENSP00000445429.1:n.559-271C=
ENST00000543543.5:n.856C=
ENST00000544182.1:n.596C=
ENST00000544387.5:c.621C= ENSP00000438424.1:p.His207=
ENST00000545621.5:c.*516C= ENSP00000444849.1:n.*516C=
ENST00000546226.5:n.909C=
ENST00000546302.5:c.543C= ENSP00000445599.1:p.His181=
NM_000190.3:c.621C= NP_000181.2:p.His207=
NM_001024382.1:c.570C= NP_001019553.1:p.His190=
NM_001258208.1:c.621C= NP_001245137.1:p.His207=
NM_001258209.1:c.570C= NP_001245138.1:p.His190=
XM_005271531.1:c.570C= XP_005271588.1:p.His190=
XM_005271532.1:c.570C= XP_005271589.1:p.His190=
XM_005271533.2:c.567C= XP_005271590.1:p.His189=
XM_011542796.1:c.456C= XP_011541098.1:p.His152=
NM_000190.4:c.621C= MANE Select NP_000181.2:p.His207=
NM_001024382.2:c.570C= NP_001019553.1:p.His190=
XM_005271533.3:c.567C= XP_005271590.1:p.His189=
XM_017017629.1:c.570C= XP_016873118.1:p.His190=
XM_024448460.1:c.567C= XP_024304228.1:p.His189=
NM_001258208.2:c.621C= NP_001245137.1:p.His207=
NM_001258209.2:c.570C= NP_001245138.1:p.His190=