Canonical Allele Identifier: CA1365145699
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057181G= , CM000665.2:g.53057181G= GRCh38
NC_000003.11:g.53091197G= , CM000665.1:g.53091197G= GRCh37
NC_000003.10:g.53066237G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9942C=
ENST00000607283.5:c.465-13927C=
ENST00000607495.5:c.447+20507C=