Canonical Allele Identifier: CA2612162228
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225545-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225545G>A , CM000673.2:g.5225545G>A GRCh38
NC_000011.9:g.5246775G>A , CM000673.1:g.5246775G>A GRCh37
NC_000011.8:g.5203351G>A NCBI36
NG_000007.3:g.72071C>T
NG_059281.1:g.6527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*53C>T ENSP00000494175.1:n.*53C>T
ENST00000335295.4:c.*53C>T MANE Select ENSP00000333994.3:n.*53C>T
ENST00000633227.1:c.*313C>T ENSP00000488004.1:n.*313C>T
NM_000518.4:c.*53C>T NP_000509.1:n.*53C>T
NM_000518.5:c.*53C>T MANE Select NP_000509.1:n.*53C>T
Search 100 bp 5'
Search 100 bp 3'