Canonical Allele Identifier: CA2612162512

Gene: HBB

Linked Data

• gnomAD v4: 11-5227220-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227220C>T , CM000673.2:g.5227220C>T	GRCh38
NC_000011.9:g.5248450C>T , CM000673.1:g.5248450C>T	GRCh37
NC_000011.8:g.5205026C>T	NCBI36
NG_000007.3:g.70396G>A
NG_059281.1:g.4852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380315.2:c.-18-181G>A	ENSP00000369671.2:n.-18-181G>A