Canonical Allele Identifier: CA379273797
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226622A>T , CM000673.2:g.5226622A>T GRCh38
NC_000011.9:g.5247852A>T , CM000673.1:g.5247852A>T GRCh37
NC_000011.8:g.5204428A>T NCBI36
NG_000007.3:g.70994T>A
NG_059281.1:g.5450T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.270T>A ENSP00000494175.1:p.Ser90Arg
ENST00000335295.4:c.270T>A MANE Select ENSP00000333994.3:p.Ser90Arg
ENST00000380315.2:c.270T>A ENSP00000369671.2:p.Ser90Arg
ENST00000475226.1:n.202T>A
ENST00000485743.1:n.321T>A
ENST00000633227.1:c.*86T>A ENSP00000488004.1:n.*86T>A
NM_000518.4:c.270T>A NP_000509.1:p.Ser90Arg
NM_000518.5:c.270T>A MANE Select NP_000509.1:p.Ser90Arg