Canonical Allele Identifier: CA472638408

Gene: HBB

Linked Data

• MyVariant Identifiers: chr11:g.5246894T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225664T>G , CM000673.2:g.5225664T>G	GRCh38
NC_000011.9:g.5246894T>G , CM000673.1:g.5246894T>G	GRCh37
NC_000011.8:g.5203470T>G	NCBI36
NG_000007.3:g.71952A>C
NG_059281.1:g.6408A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.378A>C	ENSP00000494175.1:p.Pro126=
ENST00000335295.4:c.378A>C MANE Select	ENSP00000333994.3:p.Pro126=
ENST00000475226.1:n.310A>C
ENST00000633227.1:c.*194A>C	ENSP00000488004.1:n.*194A>C
NM_000518.4:c.378A>C	NP_000509.1:p.Pro126=
NM_000518.5:c.378A>C MANE Select	NP_000509.1:p.Pro126=