Canonical Allele Identifier: CA355302094

Gene: CCDC39

Linked Data

• MyVariant Identifiers: chr3:g.180377295T>A (hg19) ; chr3:g.180659507T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659507T>A , CM000665.2:g.180659507T>A	GRCh38
NC_000003.11:g.180377295T>A , CM000665.1:g.180377295T>A	GRCh37
NC_000003.10:g.181859989T>A	NCBI36
NG_029581.1:g.24989A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.683A>T MANE Select	ENSP00000417960.2:p.Glu228Val
ENST00000650641.1:n.762A>T
ENST00000650889.1:n.855A>T
ENST00000651046.1:c.683A>T	ENSP00000499175.1:p.Glu228Val
ENST00000651818.1:n.825A>T
ENST00000652024.1:n.774A>T
ENST00000652408.1:n.820A>T
ENST00000442201.6:c.683A>T	ENSP00000405708.2:p.Glu228Val
ENST00000476379.5:c.683A>T	ENSP00000417960.1:p.Glu228Val
NM_181426.1:c.683A>T	NP_852091.1:p.Glu228Val
NM_181426.2:c.683A>T MANE Select	NP_852091.1:p.Glu228Val