Canonical Allele Identifier: CA2838017580

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226815T>G , CM000673.2:g.5226815T>G	GRCh38
NC_000011.9:g.5248045T>G , CM000673.1:g.5248045T>G	GRCh37
NC_000011.8:g.5204621T>G	NCBI36
NG_000007.3:g.70801A>C
NG_059281.1:g.5257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-16A>C	ENSP00000494175.1:n.93-16A>C
ENST00000335295.4:c.93-16A>C MANE Select	ENSP00000333994.3:n.93-16A>C
ENST00000380315.2:c.93-16A>C	ENSP00000369671.2:n.93-16A>C
ENST00000475226.1:n.9A>C
ENST00000485743.1:n.144-16A>C
ENST00000633227.1:c.77-16A>C	ENSP00000488004.1:n.77-16A>C
NM_000518.4:c.93-16A>C	NP_000509.1:n.93-16A>C
NM_000518.5:c.93-16A>C MANE Select	NP_000509.1:n.93-16A>C