Canonical Allele Identifier: CA1365145569
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056885G= , CM000665.2:g.53056885G= GRCh38
NC_000003.11:g.53090901G= , CM000665.1:g.53090901G= GRCh37
NC_000003.10:g.53065941G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9646C=
ENST00000607283.5:c.465-13631C=
ENST00000607495.5:c.447+20803C=