Canonical Allele Identifier: CA2616356110
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119093647-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093647G>T , CM000673.2:g.119093647G>T GRCh38
NC_000011.9:g.118964357G>T , CM000673.1:g.118964357G>T GRCh37
NC_000011.8:g.118469567G>T NCBI36
NG_008093.1:g.13771G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.*364G>T ENSP00000509288.1:n.*364G>T
Search 100 bp 5'
Search 100 bp 3'