Canonical Allele Identifier: CA602168942
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1342381563
gnomAD v2: 11-118964314-C-A
gnomAD v3: 11-119093604-C-A
gnomAD v4: 11-119093604-C-A
MyVariant Identifiers: chr11:g.118964314C>A (hg19) chr11:g.119093604C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093604C>A , CM000673.2:g.119093604C>A GRCh38
NC_000011.9:g.118964314C>A , CM000673.1:g.118964314C>A GRCh37
NC_000011.8:g.118469524C>A NCBI36
NG_008093.1:g.13728C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*321C>A ENSP00000509288.1:n.*321C>A
Search 100 bp 5'
Search 100 bp 3'