Canonical Allele Identifier: CA2612162520
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227225-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227225G>T , CM000673.2:g.5227225G>T GRCh38
NC_000011.9:g.5248455G>T , CM000673.1:g.5248455G>T GRCh37
NC_000011.8:g.5205031G>T NCBI36
NG_000007.3:g.70391C>A
NG_059281.1:g.4847C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380315.2:c.-18-186C>A ENSP00000369671.2:n.-18-186C>A