Canonical Allele Identifier: CA2612162248
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225577-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225577T>C , CM000673.2:g.5225577T>C GRCh38
NC_000011.9:g.5246807T>C , CM000673.1:g.5246807T>C GRCh37
NC_000011.8:g.5203383T>C NCBI36
NG_000007.3:g.72039A>G
NG_059281.1:g.6495A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*21A>G ENSP00000494175.1:n.*21A>G
ENST00000335295.4:c.*21A>G MANE Select ENSP00000333994.3:n.*21A>G
ENST00000633227.1:c.*281A>G ENSP00000488004.1:n.*281A>G
NM_000518.4:c.*21A>G NP_000509.1:n.*21A>G
NM_000518.5:c.*21A>G MANE Select NP_000509.1:n.*21A>G
Search 100 bp 5'
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