Canonical Allele Identifier: CA2739276165
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2795099
ClinVar RCV Id: RCV003675228
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226420A>G , CM000673.2:g.5226420A>G GRCh38
NC_000011.9:g.5247650A>G , CM000673.1:g.5247650A>G GRCh37
NC_000011.8:g.5204226A>G NCBI36
NG_000007.3:g.71196T>C
NG_059281.1:g.5652T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.315+157T>C ENSP00000494175.1:n.315+157T>C
ENST00000335295.4:c.315+157T>C MANE Select ENSP00000333994.3:n.315+157T>C
ENST00000475226.1:n.247+157T>C
ENST00000485743.1:n.523T>C
ENST00000633227.1:c.*131+157T>C ENSP00000488004.1:n.*131+157T>C
NM_000518.4:c.315+157T>C NP_000509.1:n.315+157T>C
NM_000518.5:c.315+157T>C MANE Select NP_000509.1:n.315+157T>C
Search 100 bp 5'
Search 100 bp 3'