Canonical Allele Identifier: CA229597767
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs767838908
gnomAD v2: 11-118964266-T-C
gnomAD v3: 11-119093556-T-C
gnomAD v4: 11-119093556-T-C
MyVariant Identifiers: chr11:g.118964266T>C (hg19) chr11:g.119093556T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093556T>C , CM000673.2:g.119093556T>C GRCh38
NC_000011.9:g.118964266T>C , CM000673.1:g.118964266T>C GRCh37
NC_000011.8:g.118469476T>C NCBI36
NG_008093.1:g.13680T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*273T>C ENSP00000509288.1:n.*273T>C
Search 100 bp 5'
Search 100 bp 3'