Canonical Allele Identifier: CA1949713544

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5496926A>C , CM000673.2:g.5496926A>C GRCh38
NC_000011.9:g.5518156A>C , CM000673.1:g.5518156A>C GRCh37
NC_000011.8:g.5474732A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000292896.3:c.-267+8643T>G (HBE1) ENSP00000292896.2:n.-267+8643T>G
ENST00000380252.6:c.-74+8425T>G (HBG2) ENSP00000369602.2:n.-74+8425T>G
ENST00000380259.7:c.982+93899T>G ENSP00000369609.3:n.982+93899T>G
ENST00000415970.6:n.84+8643T>G (OR51B5)
ENST00000418729.1:n.84+8643T>G (OR51B5)
ENST00000420465.6:n.45+8643T>G (OR51B5)
ENST00000420726.6:n.45+8643T>G (OR51B5)
ENST00000380237.5:c.-310+8643T>G (HBE1) ENSP00000369586.1:n.-310+8643T>G
ENST00000380252.5:c.62+8425T>G (HBG2) ENSP00000369602.1:n.62+8425T>G
ENST00000380259.6:c.-565+93899T>G (HBG2) ENSP00000369609.2:n.-565+93899T>G
ENST00000396895.1:c.-267+8643T>G (HBE1) ENSP00000380104.1:n.-267+8643T>G
NM_001005567.2:c.-360+8643T>G (OR51B5) NP_001005567.2:n.-360+8643T>G
NR_038321.1:n.84+8643T>G (OR51B5)
NM_001005567.3:c.-360+8643T>G (OR51B5) NP_001005567.2:n.-360+8643T>G
NR_038321.2:n.84+8643T>G (OR51B5)