Canonical Allele Identifier: CA1365150287
Community Standard Title: NC_000003.12:g.53066198G=
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53066198G= , CM000665.2:g.53066198G= GRCh38
NC_000003.11:g.53100214G= , CM000665.1:g.53100214G= GRCh37
NC_000003.10:g.53075254G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.317+11490C=
ENST00000607283.5:c.464+11490C=
ENST00000607495.5:c.447+11490C=