Canonical Allele Identifier: CA2579829150
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227088T>C , CM000673.2:g.5227088T>C GRCh38
NC_000011.9:g.5248318T>C , CM000673.1:g.5248318T>C GRCh37
NC_000011.8:g.5204894T>C NCBI36
NG_000007.3:g.70528A>G
NG_059281.1:g.4984A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-67A>G ENSP00000494175.1:n.-67A>G
ENST00000380315.2:c.-18-49A>G ENSP00000369671.2:n.-18-49A>G