Canonical Allele Identifier: CA602168944
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1252264792
gnomAD v2: 11-118964350-T-A
gnomAD v3: 11-119093640-T-A
gnomAD v4: 11-119093640-T-A
MyVariant Identifiers: chr11:g.118964350T>A (hg19) chr11:g.119093640T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093640T>A , CM000673.2:g.119093640T>A GRCh38
NC_000011.9:g.118964350T>A , CM000673.1:g.118964350T>A GRCh37
NC_000011.8:g.118469560T>A NCBI36
NG_008093.1:g.13764T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*357T>A ENSP00000509288.1:n.*357T>A
Search 100 bp 5'
Search 100 bp 3'