Canonical Allele Identifier: CA1363447947
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49358927T= , CM000665.2:g.49358927T= GRCh38
NC_000003.11:g.49396360T= , CM000665.1:g.49396360T= GRCh37
NC_000003.10:g.49371364T= NCBI36
NG_012264.1:g.4432A=
NG_051308.1:g.58171A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000704379.1:n.14A=
ENST00000704380.1:n.85+130A=
ENST00000704381.1:c.465-1180A= ENSP00000515884.1:n.465-1180A=