Canonical Allele Identifier: CA1365145679
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057143C= , CM000665.2:g.53057143C= GRCh38
NC_000003.11:g.53091159C= , CM000665.1:g.53091159C= GRCh37
NC_000003.10:g.53066199C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9904G=
ENST00000607283.5:c.465-13889G=
ENST00000607495.5:c.447+20545G=