Canonical Allele Identifier: CA472885800
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5248017G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226787G>C , CM000673.2:g.5226787G>C GRCh38
NC_000011.9:g.5248017G>C , CM000673.1:g.5248017G>C GRCh37
NC_000011.8:g.5204593G>C NCBI36
NG_000007.3:g.70829C>G
NG_059281.1:g.5285C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.105C>G ENSP00000494175.1:p.Val35=
ENST00000335295.4:c.105C>G MANE Select ENSP00000333994.3:p.Val35=
ENST00000380315.2:c.105C>G ENSP00000369671.2:p.Val35=
ENST00000475226.1:n.37C>G
ENST00000485743.1:n.156C>G
ENST00000633227.1:c.89C>G ENSP00000488004.1:p.Ser30Cys
NM_000518.4:c.105C>G NP_000509.1:p.Val35=
NM_000518.5:c.105C>G MANE Select NP_000509.1:p.Val35=