Canonical Allele Identifier: CA1980416148
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67947557C= , CM000673.2:g.67947557C= GRCh38
NC_000011.9:g.67715028C= , CM000673.1:g.67715028C= GRCh37
NC_000011.8:g.67471604C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000527543.2:n.322-7783G=
XM_024448784.1:c.466-7783G= XP_024304552.1:n.466-7783G=
XR_002957254.1:n.1090-7783G=
XR_002957255.1:n.1085+7925G=
XR_002957256.1:n.1093-7783G=