Canonical Allele Identifier: CA217112611

Gene: HBB

Linked Data

• dbSNP Id: rs33971848
• MyVariant Identifiers: chr11:g.5246905A>T (hg19) ; chr11:g.5225675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225675A>T , CM000673.2:g.5225675A>T	GRCh38
NC_000011.9:g.5246905A>T , CM000673.1:g.5246905A>T	GRCh37
NC_000011.8:g.5203481A>T	NCBI36
NG_000007.3:g.71941T>A
NG_059281.1:g.6397T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.367T>A	ENSP00000494175.1:p.Phe123Ile
ENST00000335295.4:c.367T>A MANE Select	ENSP00000333994.3:p.Phe123Ile
ENST00000475226.1:n.299T>A
ENST00000633227.1:c.*183T>A	ENSP00000488004.1:n.*183T>A
NM_000518.4:c.367T>A	NP_000509.1:p.Phe123Ile
NM_000518.5:c.367T>A MANE Select	NP_000509.1:p.Phe123Ile