Canonical Allele Identifier: CA2739306781

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225487T>A , CM000673.2:g.5225487T>A	GRCh38
NC_000011.9:g.5246717T>A , CM000673.1:g.5246717T>A	GRCh37
NC_000011.8:g.5203293T>A	NCBI36
NG_000007.3:g.72129A>T
NG_059281.1:g.6585A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.*111A>T	ENSP00000494175.1:n.*111A>T
ENST00000335295.4:c.*111A>T MANE Select	ENSP00000333994.3:n.*111A>T
ENST00000633227.1:c.*371A>T	ENSP00000488004.1:n.*371A>T
NM_000518.4:c.*111A>T	NP_000509.1:n.*111A>T
NM_000518.5:c.*111A>T MANE Select	NP_000509.1:n.*111A>T