Canonical Allele Identifier: CA355306395
Community Standard Title: NM_181426.2(CCDC39):c.90+1G>C
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180679290C>G , CM000665.2:g.180679290C>G GRCh38
NC_000003.11:g.180397078C>G , CM000665.1:g.180397078C>G GRCh37
NC_000003.10:g.181879772C>G NCBI36
NG_029581.1:g.5206G>C

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.90+1G>C MANE Select NP_852091.1:n.90+1G>C
ENST00000476379.6:c.90+1G>C MANE Select ENSP00000417960.2:n.90+1G>C
NM_181426.1:c.90+1G>C NP_852091.1:n.90+1G>C
ENST00000442201.6:c.90+1G>C ENSP00000405708.2:n.90+1G>C
ENST00000471307.6:c.37-15304G>C ENSP00000418702.2:n.37-15304G>C
ENST00000476379.5:c.90+1G>C ENSP00000417960.1:n.90+1G>C
ENST00000650641.1:n.169+1G>C
ENST00000650889.1:n.262+318G>C
ENST00000651046.1:c.90+1G>C ENSP00000499175.1:n.90+1G>C
ENST00000651818.1:n.232+318G>C
ENST00000652024.1:n.181+1G>C
ENST00000652408.1:n.227+318G>C