Canonical Allele Identifier: CA217113533

Gene: HBB

Linked Data

• dbSNP Id: rs34515413
• MyVariant Identifiers: chr11:g.5247828G>T (hg19) ; chr11:g.5226598G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226598G>T , CM000673.2:g.5226598G>T	GRCh38
NC_000011.9:g.5247828G>T , CM000673.1:g.5247828G>T	GRCh37
NC_000011.8:g.5204404G>T	NCBI36
NG_000007.3:g.71018C>A
NG_059281.1:g.5474C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.294C>A	ENSP00000494175.1:p.His98Gln
ENST00000335295.4:c.294C>A MANE Select	ENSP00000333994.3:p.His98Gln
ENST00000475226.1:n.226C>A
ENST00000485743.1:n.345C>A
ENST00000633227.1:c.*110C>A	ENSP00000488004.1:n.*110C>A
NM_000518.4:c.294C>A	NP_000509.1:p.His98Gln
NM_000518.5:c.294C>A MANE Select	NP_000509.1:p.His98Gln