Canonical Allele Identifier: CA2838298645

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225517T>A , CM000673.2:g.5225517T>A	GRCh38
NC_000011.9:g.5246747T>A , CM000673.1:g.5246747T>A	GRCh37
NC_000011.8:g.5203323T>A	NCBI36
NG_000007.3:g.72099A>T
NG_059281.1:g.6555A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*81A>T	ENSP00000494175.1:n.*81A>T
ENST00000335295.4:c.*81A>T MANE Select	ENSP00000333994.3:n.*81A>T
ENST00000633227.1:c.*341A>T	ENSP00000488004.1:n.*341A>T
NM_000518.4:c.*81A>T	NP_000509.1:n.*81A>T
NM_000518.5:c.*81A>T MANE Select	NP_000509.1:n.*81A>T