Canonical Allele Identifier: CA1318169462
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.195007060G= , CM000664.2:g.195007060G= GRCh38
NC_000002.11:g.195871784G= , CM000664.1:g.195871784G= GRCh37
NC_000002.10:g.195580029G= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001739836.1:n.553+52375C=