Canonical Allele Identifier: CA379274611
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226788A>C , CM000673.2:g.5226788A>C GRCh38
NC_000011.9:g.5248018A>C , CM000673.1:g.5248018A>C GRCh37
NC_000011.8:g.5204594A>C NCBI36
NG_000007.3:g.70828T>G
NG_059281.1:g.5284T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.104T>G ENSP00000494175.1:p.Val35Gly
ENST00000335295.4:c.104T>G MANE Select ENSP00000333994.3:p.Val35Gly
ENST00000380315.2:c.104T>G ENSP00000369671.2:p.Val35Gly
ENST00000475226.1:n.36T>G
ENST00000485743.1:n.155T>G
ENST00000633227.1:c.88T>G ENSP00000488004.1:p.Ser30Ala
NM_000518.4:c.104T>G NP_000509.1:p.Val35Gly
NM_000518.5:c.104T>G MANE Select NP_000509.1:p.Val35Gly