Canonical Allele Identifier: CA2579829336
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227165C>G , CM000673.2:g.5227165C>G GRCh38
NC_000011.9:g.5248395C>G , CM000673.1:g.5248395C>G GRCh37
NC_000011.8:g.5204971C>G NCBI36
NG_000007.3:g.70451G>C
NG_059281.1:g.4907G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-144G>C ENSP00000494175.1:n.-144G>C
ENST00000380315.2:c.-18-126G>C ENSP00000369671.2:n.-18-126G>C