Canonical Allele Identifier: CA2579829129
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227081A>C , CM000673.2:g.5227081A>C GRCh38
NC_000011.9:g.5248311A>C , CM000673.1:g.5248311A>C GRCh37
NC_000011.8:g.5204887A>C NCBI36
NG_000007.3:g.70535T>G
NG_059281.1:g.4991T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-60T>G ENSP00000494175.1:n.-60T>G
ENST00000380315.2:c.-18-42T>G ENSP00000369671.2:n.-18-42T>G