Canonical Allele Identifier: CA379273773
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226602A>T , CM000673.2:g.5226602A>T GRCh38
NC_000011.9:g.5247832A>T , CM000673.1:g.5247832A>T GRCh37
NC_000011.8:g.5204408A>T NCBI36
NG_000007.3:g.71014T>A
NG_059281.1:g.5470T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.290T>A ENSP00000494175.1:p.Leu97Gln
ENST00000335295.4:c.290T>A MANE Select ENSP00000333994.3:p.Leu97Gln
ENST00000475226.1:n.222T>A
ENST00000485743.1:n.341T>A
ENST00000633227.1:c.*106T>A ENSP00000488004.1:n.*106T>A
NM_000518.4:c.290T>A NP_000509.1:p.Leu97Gln
NM_000518.5:c.290T>A MANE Select NP_000509.1:p.Leu97Gln