Canonical Allele Identifier: CA217115183
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs33950507

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226943C>G , CM000673.2:g.5226943C>G GRCh38
NC_000011.9:g.5248173C>G , CM000673.1:g.5248173C>G GRCh37
NC_000011.8:g.5204749C>G NCBI36
NG_000007.3:g.70673G>C
NG_059281.1:g.5129G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.79G>C ENSP00000494175.1:p.Glu27Gln
ENST00000335295.4:c.79G>C MANE Select ENSP00000333994.3:p.Glu27Gln
ENST00000380315.2:c.79G>C ENSP00000369671.2:p.Glu27Gln
ENST00000485743.1:n.130G>C
ENST00000633227.1:c.76+3G>C ENSP00000488004.1:n.76+3G>C
NM_000518.4:c.79G>C NP_000509.1:p.Glu27Gln
NM_000518.5:c.79G>C MANE Select NP_000509.1:p.Glu27Gln