Canonical Allele Identifier: CA251828
Gene: HMBS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1469
ClinVar RCV Id: RCV000001534
dbSNP Id: rs118204111

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092491T>C , CM000673.2:g.119092491T>C GRCh38
NC_000011.9:g.118963201T>C , CM000673.1:g.118963201T>C GRCh37
NC_000011.8:g.118468411T>C NCBI36
NG_008093.1:g.12615T>C

Transcript Alleles

HGVS Amino-acid change
NM_000190.3:c.739T>C VV NP_000181.2:p.Cys247Arg
NM_001024382.1:c.688T>C VV NP_001019553.1:p.Cys230Arg
NM_001258208.1:c.652-267T>C VV NP_001245137.1:p.=
NM_001258209.1:c.601-267T>C VV NP_001245138.1:p.=
XM_005271531.1:c.688T>C XP_005271588.1:p.Cys230Arg
XM_005271532.1:c.688T>C XP_005271589.1:p.Cys230Arg
XM_005271533.2:c.685T>C XP_005271590.1:p.Cys229Arg
XM_011542796.1:c.574T>C XP_011541098.1:p.Cys192Arg
NM_000190.4:c.739T>C VV NP_000181.2:p.Cys247Arg
NM_001024382.2:c.688T>C VV NP_001019553.1:p.Cys230Arg
XM_005271533.3:c.685T>C XP_005271590.1:p.Cys229Arg
XM_017017629.1:c.688T>C XP_016873118.1:p.Cys230Arg
XM_024448460.1:c.598-267T>C XP_024304228.1:p.=
ENST00000278715.7:c.739T>C ENSP00000278715.3:p.Cys247Arg
ENST00000392841.1:c.688T>C ENSP00000376584.1:p.Cys230Arg
ENST00000442944.6:c.688T>C ENSP00000392041.2:p.Cys230Arg
ENST00000537841.5:c.688T>C ENSP00000444730.1:p.Cys230Arg
ENST00000542044.5:n.1184T>C
ENST00000542729.5:c.601-267T>C ENSP00000443058.1:p.=
ENST00000543090.5:c.646T>C ENSP00000445429.1:p.Cys216Arg
ENST00000543543.5:n.1214T>C
ENST00000544182.1:n.954T>C
ENST00000544387.5:c.652-267T>C ENSP00000438424.1:p.=
ENST00000545621.5:c.*874T>C ENSP00000444849.1:p.=
ENST00000546226.5:n.1267T>C