Canonical Allele Identifier: CA2003791821
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092518C= , CM000673.2:g.119092518C= GRCh38
NC_000011.9:g.118963228C= , CM000673.1:g.118963228C= GRCh37
NC_000011.8:g.118468438C= NCBI36
NG_008093.1:g.12642C=

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.601C= ENSP00000509288.1:p.His201=
ENST00000691144.1:n.2747C=
ENST00000691249.1:n.1590C=
ENST00000442944.7:c.748C= ENSP00000392041.3:p.His250=
ENST00000640813.1:c.*3C= ENSP00000491061.1:n.*3C=
ENST00000648026.1:c.660C= ENSP00000498044.1:n.660C=
ENST00000648374.1:c.715C= ENSP00000497255.1:p.His239=
ENST00000649823.1:n.1223C=
ENST00000650101.1:c.697C= ENSP00000496970.1:p.His233=
ENST00000650307.1:n.1592C=
ENST00000652429.1:c.766C= MANE Select ENSP00000498786.1:p.His256=
ENST00000278715.7:c.766C= ENSP00000278715.3:p.His256=
ENST00000392841.1:c.715C= ENSP00000376584.1:p.His239=
ENST00000442944.6:c.715C= ENSP00000392041.2:p.His239=
ENST00000537841.5:c.715C= ENSP00000444730.1:p.His239=
ENST00000542044.5:n.1211C=
ENST00000542729.5:c.601-240C= ENSP00000443058.1:n.601-240C=
ENST00000543090.5:c.673C= ENSP00000445429.1:p.His225=
ENST00000543543.5:n.1241C=
ENST00000544182.1:n.981C=
ENST00000544387.5:c.652-240C= ENSP00000438424.1:n.652-240C=
ENST00000546226.5:n.1294C=
NM_000190.3:c.766C= NP_000181.2:p.His256=
NM_001024382.1:c.715C= NP_001019553.1:p.His239=
NM_001258208.1:c.652-240C= NP_001245137.1:n.652-240C=
NM_001258209.1:c.601-240C= NP_001245138.1:n.601-240C=
XM_005271531.1:c.715C= XP_005271588.1:p.His239=
XM_005271532.1:c.715C= XP_005271589.1:p.His239=
XM_005271533.2:c.712C= XP_005271590.1:p.His238=
XM_011542796.1:c.601C= XP_011541098.1:p.His201=
NM_000190.4:c.766C= MANE Select NP_000181.2:p.His256=
NM_001024382.2:c.715C= NP_001019553.1:p.His239=
XM_005271533.3:c.712C= XP_005271590.1:p.His238=
XM_017017629.1:c.715C= XP_016873118.1:p.His239=
XM_024448460.1:c.598-240C= XP_024304228.1:n.598-240C=
NM_001258208.2:c.652-240C= NP_001245137.1:n.652-240C=
NM_001258209.2:c.601-240C= NP_001245138.1:n.601-240C=