Canonical Allele Identifier: CA1949597952

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5285279G>C , CM000673.2:g.5285279G>C GRCh38
NC_000011.9:g.5306509G>C , CM000673.1:g.5306509G>C GRCh37
NC_000011.8:g.5263085G>C NCBI36
NG_000007.3:g.12337C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000292896.3:c.-266-15123C>G (HBE1) ENSP00000292896.2:n.-266-15123C>G
ENST00000380252.6:c.-73-30765C>G (HBG2) ENSP00000369602.2:n.-73-30765C>G
ENST00000380259.7:c.1110-30114C>G ENSP00000369609.3:n.1110-30114C>G
ENST00000643199.1:n.90-15123C>G
ENST00000646569.1:n.59-25742C>G
ENST00000380237.5:c.-309-3328C>G (HBE1) ENSP00000369586.1:n.-309-3328C>G
ENST00000380252.5:c.63-30765C>G (HBG2) ENSP00000369602.1:n.63-30765C>G
ENST00000380259.6:c.-437-30114C>G (HBG2) ENSP00000369609.2:n.-437-30114C>G
ENST00000396895.1:c.-266-15123C>G (HBE1) ENSP00000380104.1:n.-266-15123C>G