Canonical Allele Identifier: CA229597802
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs367558273
gnomAD v2: 11-118964284-G-A
gnomAD v3: 11-119093574-G-A
gnomAD v4: 11-119093574-G-A
MyVariant Identifiers: chr11:g.118964284G>A (hg19) chr11:g.119093574G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093574G>A , CM000673.2:g.119093574G>A GRCh38
NC_000011.9:g.118964284G>A , CM000673.1:g.118964284G>A GRCh37
NC_000011.8:g.118469494G>A NCBI36
NG_008093.1:g.13698G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*291G>A ENSP00000509288.1:n.*291G>A
Search 100 bp 5'
Search 100 bp 3'