Canonical Allele Identifier: CA2579829562

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249874G>A , CM000673.2:g.5249874G>A GRCh38
NC_000011.9:g.5271104G>A , CM000673.1:g.5271104G>A GRCh37
NC_000011.8:g.5227680G>A NCBI36
NG_000007.3:g.47742C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1387C>T ENSP00000495346.1:n.316-1387C>T
ENST00000647543.1:c.379-1387C>T ENSP00000496470.1:n.379-1387C>T
ENST00000330597.3:c.-70C>T (HBG1) ENSP00000327431.3:n.-70C>T
ENST00000620888.4:c.316-1387C>T (HBG2) ENSP00000479637.1:n.316-1387C>T