Canonical Allele Identifier: CA2616356018
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093597-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093597G>T , CM000673.2:g.119093597G>T GRCh38
NC_000011.9:g.118964307G>T , CM000673.1:g.118964307G>T GRCh37
NC_000011.8:g.118469517G>T NCBI36
NG_008093.1:g.13721G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*314G>T ENSP00000509288.1:n.*314G>T
Search 100 bp 5'
Search 100 bp 3'