Canonical Allele Identifier: CA2612162194
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225522-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225522A>G , CM000673.2:g.5225522A>G GRCh38
NC_000011.9:g.5246752A>G , CM000673.1:g.5246752A>G GRCh37
NC_000011.8:g.5203328A>G NCBI36
NG_000007.3:g.72094T>C
NG_059281.1:g.6550T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*76T>C ENSP00000494175.1:n.*76T>C
ENST00000335295.4:c.*76T>C MANE Select ENSP00000333994.3:n.*76T>C
ENST00000633227.1:c.*336T>C ENSP00000488004.1:n.*336T>C
NM_000518.4:c.*76T>C NP_000509.1:n.*76T>C
NM_000518.5:c.*76T>C MANE Select NP_000509.1:n.*76T>C
Search 100 bp 5'
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