Canonical Allele Identifier: CA251836
Gene: HMBS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1474
ClinVar RCV Id: RCV000001539
dbSNP Id: rs118204115

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000190.3:c.766C>A VV NP_000181.2:p.His256Asn
NM_001024382.1:c.715C>A VV NP_001019553.1:p.His239Asn
NM_001258208.1:c.652-240C>A VV NP_001245137.1:p.=
NM_001258209.1:c.601-240C>A VV NP_001245138.1:p.=
XM_005271531.1:c.715C>A XP_005271588.1:p.His239Asn
XM_005271532.1:c.715C>A XP_005271589.1:p.His239Asn
XM_005271533.2:c.712C>A XP_005271590.1:p.His238Asn
XM_011542796.1:c.601C>A XP_011541098.1:p.His201Asn
NM_000190.4:c.766C>A VV NP_000181.2:p.His256Asn
NM_001024382.2:c.715C>A VV NP_001019553.1:p.His239Asn
XM_005271533.3:c.712C>A XP_005271590.1:p.His238Asn
XM_017017629.1:c.715C>A XP_016873118.1:p.His239Asn
XM_024448460.1:c.598-240C>A XP_024304228.1:p.=
ENST00000278715.7:c.766C>A ENSP00000278715.3:p.His256Asn
ENST00000392841.1:c.715C>A ENSP00000376584.1:p.His239Asn
ENST00000442944.6:c.715C>A ENSP00000392041.2:p.His239Asn
ENST00000537841.5:c.715C>A ENSP00000444730.1:p.His239Asn
ENST00000542044.5:n.1211C>A
ENST00000542729.5:c.601-240C>A ENSP00000443058.1:p.=
ENST00000543090.5:c.673C>A ENSP00000445429.1:p.His225Asn
ENST00000543543.5:n.1241C>A
ENST00000544182.1:n.981C>A
ENST00000544387.5:c.652-240C>A ENSP00000438424.1:p.=
ENST00000546226.5:n.1294C>A