Canonical Allele Identifier: CA379274502

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5247988G>T (hg19) ; chr11:g.5226758G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226758G>T , CM000673.2:g.5226758G>T	GRCh38
NC_000011.9:g.5247988G>T , CM000673.1:g.5247988G>T	GRCh37
NC_000011.8:g.5204564G>T	NCBI36
NG_000007.3:g.70858C>A
NG_059281.1:g.5314C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.134C>A	ENSP00000494175.1:p.Ser45Tyr
ENST00000335295.4:c.134C>A MANE Select	ENSP00000333994.3:p.Ser45Tyr
ENST00000380315.2:c.134C>A	ENSP00000369671.2:p.Ser45Tyr
ENST00000475226.1:n.66C>A
ENST00000485743.1:n.185C>A
ENST00000633227.1:c.118C>A	ENSP00000488004.1:p.Pro40Thr
NM_000518.4:c.134C>A	NP_000509.1:p.Ser45Tyr
NM_000518.5:c.134C>A MANE Select	NP_000509.1:p.Ser45Tyr