Canonical Allele Identifier: CA379269477

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5269560G>C , CM000673.2:g.5269560G>C GRCh38
NC_000011.9:g.5290790G>C , CM000673.1:g.5290790G>C GRCh37
NC_000011.8:g.5247366G>C NCBI36
NG_000007.3:g.28056C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000292896.3:c.209C>G (HBE1) ENSP00000292896.2:p.Thr70Ser
ENST00000380252.6:c.-73-15046C>G (HBG2) ENSP00000369602.2:n.-73-15046C>G
ENST00000380259.7:c.1110-14395C>G ENSP00000369609.3:n.1110-14395C>G
ENST00000396895.3:c.209C>G (HBE1) MANE Select ENSP00000380104.2:p.Thr70Ser
ENST00000643199.1:n.536C>G
ENST00000646569.1:n.59-10023C>G
ENST00000292896.2:c.209C>G (HBE1) ENSP00000292896.2:p.Thr70Ser
ENST00000380237.5:c.209C>G (HBE1) ENSP00000369586.1:p.Thr70Ser
ENST00000380252.5:c.63-15046C>G (HBG2) ENSP00000369602.1:n.63-15046C>G
ENST00000380259.6:c.-437-14395C>G (HBG2) ENSP00000369609.2:n.-437-14395C>G
ENST00000396895.1:c.209C>G (HBE1) ENSP00000380104.1:p.Thr70Ser
NM_005330.3:c.209C>G (HBE1) NP_005321.1:p.Thr70Ser
XM_011520036.1:c.209C>G (HBE1) XP_011518338.1:p.Thr70Ser
NM_005330.4:c.209C>G (HBE1) MANE Select NP_005321.1:p.Thr70Ser