Canonical Allele Identifier: CA1365145568
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056884T= , CM000665.2:g.53056884T= GRCh38
NC_000003.11:g.53090900T= , CM000665.1:g.53090900T= GRCh37
NC_000003.10:g.53065940T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9645A=
ENST00000607283.5:c.465-13630A=
ENST00000607495.5:c.447+20804A=