Canonical Allele Identifier: CA472638730
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5246948G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225718G>C , CM000673.2:g.5225718G>C GRCh38
NC_000011.9:g.5246948G>C , CM000673.1:g.5246948G>C GRCh37
NC_000011.8:g.5203524G>C NCBI36
NG_000007.3:g.71898C>G
NG_059281.1:g.6354C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.324C>G ENSP00000494175.1:p.Gly108=
ENST00000335295.4:c.324C>G MANE Select ENSP00000333994.3:p.Gly108=
ENST00000475226.1:n.256C>G
ENST00000633227.1:c.*140C>G ENSP00000488004.1:n.*140C>G
NM_000518.4:c.324C>G NP_000509.1:p.Gly108=
NM_000518.5:c.324C>G MANE Select NP_000509.1:p.Gly108=
Search 100 bp 5'
Search 100 bp 3'