Canonical Allele Identifier: CA1424388561
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180832914G= , CM000665.2:g.180832914G= GRCh38
NC_000003.11:g.180550702G= , CM000665.1:g.180550702G= GRCh37
NC_000003.10:g.182033396G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000471307.6:c.-240+14593C= ENSP00000418702.2:n.-240+14593C=
ENST00000485055.5:n.250+14593C=
ENST00000495817.1:n.206+37886C=
NR_109986.1:n.250+14593C=