Canonical Allele Identifier: CA355300225
Community Standard Title: NM_181426.2(CCDC39):c.930+1G>A
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180654761C>T , CM000665.2:g.180654761C>T GRCh38
NC_000003.11:g.180372549C>T , CM000665.1:g.180372549C>T GRCh37
NC_000003.10:g.181855243C>T NCBI36
NG_029581.1:g.29735G>A

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.930+1G>A MANE Select NP_852091.1:n.930+1G>A
ENST00000476379.6:c.930+1G>A MANE Select ENSP00000417960.2:n.930+1G>A
NM_181426.1:c.930+1G>A NP_852091.1:n.930+1G>A
ENST00000442201.6:c.930+1G>A ENSP00000405708.2:n.930+1G>A
ENST00000476379.5:c.930+1G>A ENSP00000417960.1:n.930+1G>A
ENST00000650641.1:n.818-2495G>A
ENST00000650889.1:n.1103G>A
ENST00000651046.1:c.739-2495G>A ENSP00000499175.1:n.739-2495G>A
ENST00000651818.1:n.881-2495G>A
ENST00000652024.1:n.830-2495G>A
ENST00000652408.1:n.1067+1G>A