Canonical Allele Identifier: CA355302080

Gene: CCDC39

Linked Data

• MyVariant Identifiers: chr3:g.180377293T>A (hg19) ; chr3:g.180659505T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659505T>A , CM000665.2:g.180659505T>A	GRCh38
NC_000003.11:g.180377293T>A , CM000665.1:g.180377293T>A	GRCh37
NC_000003.10:g.181859987T>A	NCBI36
NG_029581.1:g.24991A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.685A>T MANE Select	ENSP00000417960.2:p.Asn229Tyr
ENST00000650641.1:n.764A>T
ENST00000650889.1:n.857A>T
ENST00000651046.1:c.685A>T	ENSP00000499175.1:p.Asn229Tyr
ENST00000651818.1:n.827A>T
ENST00000652024.1:n.776A>T
ENST00000652408.1:n.822A>T
ENST00000442201.6:c.685A>T	ENSP00000405708.2:p.Asn229Tyr
ENST00000476379.5:c.685A>T	ENSP00000417960.1:p.Asn229Tyr
NM_181426.1:c.685A>T	NP_852091.1:p.Asn229Tyr
NM_181426.2:c.685A>T MANE Select	NP_852091.1:p.Asn229Tyr