Canonical Allele Identifier: CA2579829412

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227192C>G , CM000673.2:g.5227192C>G	GRCh38
NC_000011.9:g.5248422C>G , CM000673.1:g.5248422C>G	GRCh37
NC_000011.8:g.5204998C>G	NCBI36
NG_000007.3:g.70424G>C
NG_059281.1:g.4880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-171G>C	ENSP00000494175.1:n.-171G>C
ENST00000380315.2:c.-18-153G>C	ENSP00000369671.2:n.-18-153G>C