Canonical Allele Identifier: CA379273720
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5246918G>C (hg19) chr11:g.5225688G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225688G>C , CM000673.2:g.5225688G>C GRCh38
NC_000011.9:g.5246918G>C , CM000673.1:g.5246918G>C GRCh37
NC_000011.8:g.5203494G>C NCBI36
NG_000007.3:g.71928C>G
NG_059281.1:g.6384C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.354C>G ENSP00000494175.1:p.His118Gln
ENST00000335295.4:c.354C>G MANE Select ENSP00000333994.3:p.His118Gln
ENST00000475226.1:n.286C>G
ENST00000633227.1:c.*170C>G ENSP00000488004.1:n.*170C>G
NM_000518.4:c.354C>G NP_000509.1:p.His118Gln
NM_000518.5:c.354C>G MANE Select NP_000509.1:p.His118Gln
Search 100 bp 5'
Search 100 bp 3'