Canonical Allele Identifier: CA2579829325

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227160T>C , CM000673.2:g.5227160T>C	GRCh38
NC_000011.9:g.5248390T>C , CM000673.1:g.5248390T>C	GRCh37
NC_000011.8:g.5204966T>C	NCBI36
NG_000007.3:g.70456A>G
NG_059281.1:g.4912A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.-139A>G	ENSP00000494175.1:n.-139A>G
ENST00000380315.2:c.-18-121A>G	ENSP00000369671.2:n.-18-121A>G