Canonical Allele Identifier: CA217114919
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs369341845

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226883A>G , CM000673.2:g.5226883A>G GRCh38
NC_000011.9:g.5248113A>G , CM000673.1:g.5248113A>G GRCh37
NC_000011.8:g.5204689A>G NCBI36
NG_000007.3:g.70733T>C
NG_059281.1:g.5189T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+47T>C ENSP00000494175.1:n.92+47T>C
ENST00000335295.4:c.92+47T>C MANE Select ENSP00000333994.3:n.92+47T>C
ENST00000380315.2:c.92+47T>C ENSP00000369671.2:n.92+47T>C
ENST00000485743.1:n.143+47T>C
ENST00000633227.1:c.76+63T>C ENSP00000488004.1:n.76+63T>C
NM_000518.4:c.92+47T>C NP_000509.1:n.92+47T>C
NM_000518.5:c.92+47T>C MANE Select NP_000509.1:n.92+47T>C