Canonical Allele Identifier: CA2612162203
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225531-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225531C>G , CM000673.2:g.5225531C>G GRCh38
NC_000011.9:g.5246761C>G , CM000673.1:g.5246761C>G GRCh37
NC_000011.8:g.5203337C>G NCBI36
NG_000007.3:g.72085G>C
NG_059281.1:g.6541G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.*67G>C ENSP00000494175.1:n.*67G>C
ENST00000335295.4:c.*67G>C MANE Select ENSP00000333994.3:n.*67G>C
ENST00000633227.1:c.*327G>C ENSP00000488004.1:n.*327G>C
NM_000518.4:c.*67G>C NP_000509.1:n.*67G>C
NM_000518.5:c.*67G>C MANE Select NP_000509.1:n.*67G>C
Search 100 bp 5'
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