Canonical Allele Identifier: CA2579829600

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249885T>G , CM000673.2:g.5249885T>G GRCh38
NC_000011.9:g.5271115T>G , CM000673.1:g.5271115T>G GRCh37
NC_000011.8:g.5227691T>G NCBI36
NG_000007.3:g.47731A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1398A>C ENSP00000495346.1:n.316-1398A>C
ENST00000647543.1:c.379-1398A>C ENSP00000496470.1:n.379-1398A>C
ENST00000330597.3:c.-81A>C (HBG1) ENSP00000327431.3:n.-81A>C
ENST00000620888.4:c.316-1398A>C (HBG2) ENSP00000479637.1:n.316-1398A>C