Canonical Allele Identifier: CA2616356025
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093601-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093601T>C , CM000673.2:g.119093601T>C GRCh38
NC_000011.9:g.118964311T>C , CM000673.1:g.118964311T>C GRCh37
NC_000011.8:g.118469521T>C NCBI36
NG_008093.1:g.13725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*318T>C ENSP00000509288.1:n.*318T>C
Search 100 bp 5'
Search 100 bp 3'