Canonical Allele Identifier: CA472885663
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5247809T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226579T>G , CM000673.2:g.5226579T>G GRCh38
NC_000011.9:g.5247809T>G , CM000673.1:g.5247809T>G GRCh37
NC_000011.8:g.5204385T>G NCBI36
NG_000007.3:g.71037A>C
NG_059281.1:g.5493A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.313A>C ENSP00000494175.1:p.Arg105=
ENST00000335295.4:c.313A>C MANE Select ENSP00000333994.3:p.Arg105=
ENST00000475226.1:n.245A>C
ENST00000485743.1:n.364A>C
ENST00000633227.1:c.*129A>C ENSP00000488004.1:n.*129A>C
NM_000518.4:c.313A>C NP_000509.1:p.Arg105=
NM_000518.5:c.313A>C MANE Select NP_000509.1:p.Arg105=