Canonical Allele Identifier: CA229597769
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs28990983
gnomAD v2: 11-118964270-C-T
gnomAD v3: 11-119093560-C-T
gnomAD v4: 11-119093560-C-T
MyVariant Identifiers: chr11:g.118964270C>T (hg19) chr11:g.119093560C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093560C>T , CM000673.2:g.119093560C>T GRCh38
NC_000011.9:g.118964270C>T , CM000673.1:g.118964270C>T GRCh37
NC_000011.8:g.118469480C>T NCBI36
NG_008093.1:g.13684C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*277C>T ENSP00000509288.1:n.*277C>T
Search 100 bp 5'
Search 100 bp 3'