Canonical Allele Identifier: CA217115328
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs63750840

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226962G>C , CM000673.2:g.5226962G>C GRCh38
NC_000011.9:g.5248192G>C , CM000673.1:g.5248192G>C GRCh37
NC_000011.8:g.5204768G>C NCBI36
NG_000007.3:g.70654C>G
NG_059281.1:g.5110C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.60C>G ENSP00000494175.1:p.Asn20Lys
ENST00000335295.4:c.60C>G MANE Select ENSP00000333994.3:p.Asn20Lys
ENST00000380315.2:c.60C>G ENSP00000369671.2:p.Asn20Lys
ENST00000485743.1:n.111C>G
ENST00000633227.1:c.60C>G ENSP00000488004.1:p.Asn20Lys
NM_000518.4:c.60C>G NP_000509.1:p.Asn20Lys
NM_000518.5:c.60C>G MANE Select NP_000509.1:p.Asn20Lys