Canonical Allele Identifier: CA229597878
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1021817236
gnomAD v2: 11-118964346-A-G
gnomAD v3: 11-119093636-A-G
gnomAD v4: 11-119093636-A-G
MyVariant Identifiers: chr11:g.118964346A>G (hg19) chr11:g.119093636A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093636A>G , CM000673.2:g.119093636A>G GRCh38
NC_000011.9:g.118964346A>G , CM000673.1:g.118964346A>G GRCh37
NC_000011.8:g.118469556A>G NCBI36
NG_008093.1:g.13760A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*353A>G ENSP00000509288.1:n.*353A>G
Search 100 bp 5'
Search 100 bp 3'