Canonical Allele Identifier: CA379273761

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5247811A>G (hg19) ; chr11:g.5226581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226581A>G , CM000673.2:g.5226581A>G	GRCh38
NC_000011.9:g.5247811A>G , CM000673.1:g.5247811A>G	GRCh37
NC_000011.8:g.5204387A>G	NCBI36
NG_000007.3:g.71035T>C
NG_059281.1:g.5491T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.311T>C	ENSP00000494175.1:p.Phe104Ser
ENST00000335295.4:c.311T>C MANE Select	ENSP00000333994.3:p.Phe104Ser
ENST00000475226.1:n.243T>C
ENST00000485743.1:n.362T>C
ENST00000633227.1:c.*127T>C	ENSP00000488004.1:n.*127T>C
NM_000518.4:c.311T>C	NP_000509.1:p.Phe104Ser
NM_000518.5:c.311T>C MANE Select	NP_000509.1:p.Phe104Ser