Canonical Allele Identifier: CA472885725
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5247861G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226631G>C , CM000673.2:g.5226631G>C GRCh38
NC_000011.9:g.5247861G>C , CM000673.1:g.5247861G>C GRCh37
NC_000011.8:g.5204437G>C NCBI36
NG_000007.3:g.70985C>G
NG_059281.1:g.5441C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.261C>G ENSP00000494175.1:p.Ala87=
ENST00000335295.4:c.261C>G MANE Select ENSP00000333994.3:p.Ala87=
ENST00000380315.2:c.261C>G ENSP00000369671.2:p.Ala87=
ENST00000475226.1:n.193C>G
ENST00000485743.1:n.312C>G
ENST00000633227.1:c.*77C>G ENSP00000488004.1:n.*77C>G
NM_000518.4:c.261C>G NP_000509.1:p.Ala87=
NM_000518.5:c.261C>G MANE Select NP_000509.1:p.Ala87=