Canonical Allele Identifier: CA251828
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1469
ClinVar RCV Id: RCV000001534 RCV002298429
dbSNP Id: rs118204111
MyVariant Identifiers: chr11:g.118963201T>C (hg19) chr11:g.119092491T>C (hg38)
PubMed: PMID:8262523
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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
ENST00000686218.1:c.574T>C ENSP00000509288.1:p.Cys192Arg
ENST00000691144.1:n.2720T>C
ENST00000691249.1:n.1563T>C
ENST00000442944.7:c.721T>C ENSP00000392041.3:p.Cys241Arg
ENST00000640813.1:c.549T>C ENSP00000491061.1:p.Ala183=
ENST00000648026.1:c.633T>C ENSP00000498044.1:p.Ala211=
ENST00000648374.1:c.688T>C ENSP00000497255.1:p.Cys230Arg
ENST00000649823.1:n.1196T>C
ENST00000650101.1:c.670T>C ENSP00000496970.1:p.Cys224Arg
ENST00000650307.1:n.1565T>C
ENST00000652429.1:c.739T>C MANE Select ENSP00000498786.1:p.Cys247Arg
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:n.601-267T>C
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:n.652-267T>C
ENST00000545621.5:c.*874T>C ENSP00000444849.1:n.*874T>C
ENST00000546226.5:n.1267T>C
NM_000190.3:c.739T>C NP_000181.2:p.Cys247Arg
NM_001024382.1:c.688T>C NP_001019553.1:p.Cys230Arg
NM_001258208.1:c.652-267T>C NP_001245137.1:n.652-267T>C
NM_001258209.1:c.601-267T>C NP_001245138.1:n.601-267T>C
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 MANE Select NP_000181.2:p.Cys247Arg
NM_001024382.2:c.688T>C 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:n.598-267T>C
NM_001258208.2:c.652-267T>C NP_001245137.1:n.652-267T>C
NM_001258209.2:c.601-267T>C NP_001245138.1:n.601-267T>C
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