Canonical Allele Identifier: CA2579829178
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227105C>G , CM000673.2:g.5227105C>G GRCh38
NC_000011.9:g.5248335C>G , CM000673.1:g.5248335C>G GRCh37
NC_000011.8:g.5204911C>G NCBI36
NG_000007.3:g.70511G>C
NG_059281.1:g.4967G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-84G>C ENSP00000494175.1:n.-84G>C
ENST00000380315.2:c.-18-66G>C ENSP00000369671.2:n.-18-66G>C