Canonical Allele Identifier: CA355302051

Gene: CCDC39

Linked Data

• MyVariant Identifiers: chr3:g.180377287T>A (hg19) ; chr3:g.180659499T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659499T>A , CM000665.2:g.180659499T>A	GRCh38
NC_000003.11:g.180377287T>A , CM000665.1:g.180377287T>A	GRCh37
NC_000003.10:g.181859981T>A	NCBI36
NG_029581.1:g.24997A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.691A>T MANE Select	ENSP00000417960.2:p.Ile231Leu
ENST00000650641.1:n.770A>T
ENST00000650889.1:n.863A>T
ENST00000651046.1:c.691A>T	ENSP00000499175.1:p.Ile231Leu
ENST00000651818.1:n.833A>T
ENST00000652024.1:n.782A>T
ENST00000652408.1:n.828A>T
ENST00000442201.6:c.691A>T	ENSP00000405708.2:p.Ile231Leu
ENST00000476379.5:c.691A>T	ENSP00000417960.1:p.Ile231Leu
NM_181426.1:c.691A>T	NP_852091.1:p.Ile231Leu
NM_181426.2:c.691A>T MANE Select	NP_852091.1:p.Ile231Leu