Canonical Allele Identifier: CA355302126

Gene: CCDC39

Linked Data

• MyVariant Identifiers: chr3:g.180377300T>G (hg19) ; chr3:g.180659512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659512T>G , CM000665.2:g.180659512T>G	GRCh38
NC_000003.11:g.180377300T>G , CM000665.1:g.180377300T>G	GRCh37
NC_000003.10:g.181859994T>G	NCBI36
NG_029581.1:g.24984A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.678A>C MANE Select	ENSP00000417960.2:p.Gln226His
ENST00000650641.1:n.757A>C
ENST00000650889.1:n.850A>C
ENST00000651046.1:c.678A>C	ENSP00000499175.1:p.Gln226His
ENST00000651818.1:n.820A>C
ENST00000652024.1:n.769A>C
ENST00000652408.1:n.815A>C
ENST00000442201.6:c.678A>C	ENSP00000405708.2:p.Gln226His
ENST00000476379.5:c.678A>C	ENSP00000417960.1:p.Gln226His
NM_181426.1:c.678A>C	NP_852091.1:p.Gln226His
NM_181426.2:c.678A>C MANE Select	NP_852091.1:p.Gln226His