Canonical Allele Identifier: CA672379107
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs1348404703
gnomAD v3: 11-119093635-C-T
gnomAD v4: 11-119093635-C-T
MyVariant Identifiers: chr11:g.118964345C>T (hg19) chr11:g.119093635C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093635C>T , CM000673.2:g.119093635C>T GRCh38
NC_000011.9:g.118964345C>T , CM000673.1:g.118964345C>T GRCh37
NC_000011.8:g.118469555C>T NCBI36
NG_008093.1:g.13759C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*352C>T ENSP00000509288.1:n.*352C>T
Search 100 bp 5'
Search 100 bp 3'