Canonical Allele Identifier: CA1365145676
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057134G= , CM000665.2:g.53057134G= GRCh38
NC_000003.11:g.53091150G= , CM000665.1:g.53091150G= GRCh37
NC_000003.10:g.53066190G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9895C=
ENST00000607283.5:c.465-13880C=
ENST00000607495.5:c.447+20554C=