Canonical Allele Identifier: CA1365145718
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057218C= , CM000665.2:g.53057218C= GRCh38
NC_000003.11:g.53091234C= , CM000665.1:g.53091234C= GRCh37
NC_000003.10:g.53066274C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9979G=
ENST00000607283.5:c.465-13964G=
ENST00000607495.5:c.447+20470G=