Canonical Allele Identifier: CA355308805
Gene: CCDC39 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180641993C>T , CM000665.2:g.180641993C>T GRCh38
NC_000003.11:g.180359781C>T , CM000665.1:g.180359781C>T GRCh37
NC_000003.10:g.181842475C>T NCBI36
NG_029581.1:g.42503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.1874G>A MANE Select ENSP00000417960.2:p.Ser625Asn
ENST00000650641.1:n.1761G>A
ENST00000651046.1:c.1682G>A ENSP00000499175.1:p.Ser561Asn
ENST00000651922.1:n.1199G>A
ENST00000652408.1:n.2011G>A
ENST00000442201.6:c.1874G>A ENSP00000405708.2:p.Ser625Asn
ENST00000476379.5:c.1874G>A ENSP00000417960.1:p.Ser625Asn
NM_181426.1:c.1874G>A NP_852091.1:p.Ser625Asn
NM_181426.2:c.1874G>A MANE Select NP_852091.1:p.Ser625Asn