Canonical Allele Identifier: CA1949564582

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225649A= , CM000673.2:g.5225649A=	GRCh38
NC_000011.9:g.5246879A= , CM000673.1:g.5246879A=	GRCh37
NC_000011.8:g.5203455A=	NCBI36
NG_000007.3:g.71967T=
NG_059281.1:g.6423T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.393T=	ENSP00000494175.1:p.Tyr131=
ENST00000335295.4:c.393T= MANE Select	ENSP00000333994.3:p.Tyr131=
ENST00000633227.1:c.*209T=	ENSP00000488004.1:n.*209T=
NM_000518.4:c.393T=	NP_000509.1:p.Tyr131=
NM_000518.5:c.393T= MANE Select	NP_000509.1:p.Tyr131=