Canonical Allele Identifier: CA2716202
Community Standard Title: NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180661911G>A , CM000665.2:g.180661911G>A GRCh38
NC_000003.11:g.180379699G>A , CM000665.1:g.180379699G>A GRCh37
NC_000003.10:g.181862393G>A NCBI36
NG_029581.1:g.22585C>T

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.307C>T MANE Select NP_852091.1:p.Arg103Trp
ENST00000476379.6:c.307C>T MANE Select ENSP00000417960.2:p.Arg103Trp
NM_181426.1:c.307C>T NP_852091.1:p.Arg103Trp
ENST00000442201.6:c.307C>T ENSP00000405708.2:p.Arg103Trp
ENST00000471307.6:c.253C>T ENSP00000418702.2:p.Arg85Trp
ENST00000476379.5:c.307C>T ENSP00000417960.1:p.Arg103Trp
ENST00000650641.1:n.386C>T
ENST00000650889.1:n.479C>T
ENST00000651046.1:c.307C>T ENSP00000499175.1:p.Arg103Trp
ENST00000651818.1:n.449C>T
ENST00000652024.1:n.398C>T
ENST00000652408.1:n.444C>T