Canonical Allele Identifier: CA1363448056
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49359117A= , CM000665.2:g.49359117A= GRCh38
NC_000003.11:g.49396550A= , CM000665.1:g.49396550A= GRCh37
NC_000003.10:g.49371554A= NCBI36
NG_012264.1:g.4242T=
NG_051308.1:g.57981T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704380.1:n.25T=
ENST00000704381.1:c.464+1210T= ENSP00000515884.1:n.464+1210T=