Canonical Allele Identifier: CA379273650
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225617A>T , CM000673.2:g.5225617A>T GRCh38
NC_000011.9:g.5246847A>T , CM000673.1:g.5246847A>T GRCh37
NC_000011.8:g.5203423A>T NCBI36
NG_000007.3:g.71999T>A
NG_059281.1:g.6455T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.425T>A ENSP00000494175.1:p.Leu142Gln
ENST00000335295.4:c.425T>A MANE Select ENSP00000333994.3:p.Leu142Gln
ENST00000633227.1:c.*241T>A ENSP00000488004.1:n.*241T>A
NM_000518.4:c.425T>A NP_000509.1:p.Leu142Gln
NM_000518.5:c.425T>A MANE Select NP_000509.1:p.Leu142Gln