Canonical Allele Identifier: CA217113411

Gene: HBB

Linked Data

• dbSNP Id: rs33911434
• MyVariant Identifiers: chr11:g.5247808C>A (hg19) ; chr11:g.5226578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226578C>A , CM000673.2:g.5226578C>A	GRCh38
NC_000011.9:g.5247808C>A , CM000673.1:g.5247808C>A	GRCh37
NC_000011.8:g.5204384C>A	NCBI36
NG_000007.3:g.71038G>T
NG_059281.1:g.5494G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.314G>T	ENSP00000494175.1:p.Arg105Met
ENST00000335295.4:c.314G>T MANE Select	ENSP00000333994.3:p.Arg105Met
ENST00000475226.1:n.246G>T
ENST00000485743.1:n.365G>T
ENST00000633227.1:c.*130G>T	ENSP00000488004.1:n.*130G>T
NM_000518.4:c.314G>T	NP_000509.1:p.Arg105Met
NM_000518.5:c.314G>T MANE Select	NP_000509.1:p.Arg105Met