Canonical Allele Identifier: CA2579829148
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227087-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227087C>G , CM000673.2:g.5227087C>G GRCh38
NC_000011.9:g.5248317C>G , CM000673.1:g.5248317C>G GRCh37
NC_000011.8:g.5204893C>G NCBI36
NG_000007.3:g.70529G>C
NG_059281.1:g.4985G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-66G>C ENSP00000494175.1:n.-66G>C
ENST00000380315.2:c.-18-48G>C ENSP00000369671.2:n.-18-48G>C
Search 100 bp 5'
Search 100 bp 3'