Canonical Allele Identifier: CA2612162235
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225554-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225554A>G , CM000673.2:g.5225554A>G GRCh38
NC_000011.9:g.5246784A>G , CM000673.1:g.5246784A>G GRCh37
NC_000011.8:g.5203360A>G NCBI36
NG_000007.3:g.72062T>C
NG_059281.1:g.6518T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*44T>C ENSP00000494175.1:n.*44T>C
ENST00000335295.4:c.*44T>C MANE Select ENSP00000333994.3:n.*44T>C
ENST00000633227.1:c.*304T>C ENSP00000488004.1:n.*304T>C
NM_000518.4:c.*44T>C NP_000509.1:n.*44T>C
NM_000518.5:c.*44T>C MANE Select NP_000509.1:n.*44T>C
Search 100 bp 5'
Search 100 bp 3'