Canonical Allele Identifier: CA2697548367
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2681974
ClinVar RCV Id: RCV003477266
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225520A>T , CM000673.2:g.5225520A>T GRCh38
NC_000011.9:g.5246750A>T , CM000673.1:g.5246750A>T GRCh37
NC_000011.8:g.5203326A>T NCBI36
NG_000007.3:g.72096T>A
NG_059281.1:g.6552T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*78T>A ENSP00000494175.1:n.*78T>A
ENST00000335295.4:c.*78T>A MANE Select ENSP00000333994.3:n.*78T>A
ENST00000633227.1:c.*338T>A ENSP00000488004.1:n.*338T>A
NM_000518.4:c.*78T>A NP_000509.1:n.*78T>A
NM_000518.5:c.*78T>A MANE Select NP_000509.1:n.*78T>A
Search 100 bp 5'
Search 100 bp 3'