Canonical Allele Identifier: CA229597819
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1032980744
gnomAD v2: 11-118964291-T-C
gnomAD v3: 11-119093581-T-C
gnomAD v4: 11-119093581-T-C
MyVariant Identifiers: chr11:g.118964291T>C (hg19) chr11:g.119093581T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093581T>C , CM000673.2:g.119093581T>C GRCh38
NC_000011.9:g.118964291T>C , CM000673.1:g.118964291T>C GRCh37
NC_000011.8:g.118469501T>C NCBI36
NG_008093.1:g.13705T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*298T>C ENSP00000509288.1:n.*298T>C
Search 100 bp 5'
Search 100 bp 3'