Canonical Allele Identifier: CA2756287202
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057119G>T , CM000665.2:g.53057119G>T GRCh38
NC_000003.11:g.53091135G>T , CM000665.1:g.53091135G>T GRCh37
NC_000003.10:g.53066175G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9880C>A
ENST00000607283.5:c.465-13865C>A
ENST00000607495.5:c.447+20569C>A