Canonical Allele Identifier: CA037400
Gene: HBB HGNC NCBI

Linked Data

PubMed: PMID:20942 PMID:7852084
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.[5225683C>T;5225708C>G] , CM000673.2:g.[5225683C>T;5225708C>G] GRCh38
NC_000011.9:g.[5246913C>T;5246938C>G] , CM000673.1:g.[5246913C>T;5246938C>G] GRCh37
NC_000011.8:g.[5203489C>T;5203514C>G] NCBI36
NG_000007.3:g.[71908G>C;71933G>A]
NG_059281.1:g.[6364G>C;6389G>A]

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.[334G>C;359G>A] ENSP00000494175.1:p.[Val112Leu;Gly120Asp]
ENST00000335295.4:c.[334G>C;359G>A] MANE Select ENSP00000333994.3:p.[Val112Leu;Gly120Asp]
ENST00000475226.1:n.[266G>C;291G>A]
ENST00000633227.1:c.[*150G>C;*175G>A] ENSP00000488004.1:n.[*150G>C;*175G>A]
NM_000518.4:c.[334G>C;359G>A] NP_000509.1:p.[Val112Leu;Gly120Asp]
NM_000518.5:c.[334G>C;359G>A] MANE Select NP_000509.1:p.[Val112Leu;Gly120Asp]
Search 100 bp 5'
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