Canonical Allele Identifier: CA379274503
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5247989A>C (hg19) chr11:g.5226759A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226759A>C , CM000673.2:g.5226759A>C GRCh38
NC_000011.9:g.5247989A>C , CM000673.1:g.5247989A>C GRCh37
NC_000011.8:g.5204565A>C NCBI36
NG_000007.3:g.70857T>G
NG_059281.1:g.5313T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.133T>G ENSP00000494175.1:p.Ser45Ala
ENST00000335295.4:c.133T>G MANE Select ENSP00000333994.3:p.Ser45Ala
ENST00000380315.2:c.133T>G ENSP00000369671.2:p.Ser45Ala
ENST00000475226.1:n.65T>G
ENST00000485743.1:n.184T>G
ENST00000633227.1:c.117T>G ENSP00000488004.1:p.Ser39Arg
NM_000518.4:c.133T>G NP_000509.1:p.Ser45Ala
NM_000518.5:c.133T>G MANE Select NP_000509.1:p.Ser45Ala
Search 100 bp 5'
Search 100 bp 3'