Canonical Allele Identifier: CA2574735554
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225511A>T , CM000673.2:g.5225511A>T GRCh38
NC_000011.9:g.5246741A>T , CM000673.1:g.5246741A>T GRCh37
NC_000011.8:g.5203317A>T NCBI36
NG_000007.3:g.72105T>A
NG_059281.1:g.6561T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*87T>A ENSP00000494175.1:n.*87T>A
ENST00000335295.4:c.*87T>A MANE Select ENSP00000333994.3:n.*87T>A
ENST00000633227.1:c.*347T>A ENSP00000488004.1:n.*347T>A
NM_000518.4:c.*87T>A NP_000509.1:n.*87T>A
NM_000518.5:c.*87T>A MANE Select NP_000509.1:n.*87T>A