Canonical Allele Identifier: CA1283225711
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.119755557G= , CM000664.2:g.119755557G= GRCh38
NC_000002.11:g.120513133G= , CM000664.1:g.120513133G= GRCh37
NC_000002.10:g.120229603G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011512306.1:c.582+4075C= XP_011510608.1:n.582+4075C=
XR_001739667.2:n.597+4075C=
XR_001739676.1:n.54+4890C=
XR_001739677.2:n.597+4075C=