Canonical Allele Identifier: CA2579829530

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249862A>T , CM000673.2:g.5249862A>T GRCh38
NC_000011.9:g.5271092A>T , CM000673.1:g.5271092A>T GRCh37
NC_000011.8:g.5227668A>T NCBI36
NG_000007.3:g.47754T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1375T>A ENSP00000495346.1:n.316-1375T>A
ENST00000647543.1:c.379-1375T>A ENSP00000496470.1:n.379-1375T>A
ENST00000330597.3:c.-58T>A (HBG1) ENSP00000327431.3:n.-58T>A
ENST00000620888.4:c.316-1375T>A (HBG2) ENSP00000479637.1:n.316-1375T>A