Canonical Allele Identifier: CA437080201
Gene: CCDC39 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.180377288T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180659500T>G , CM000665.2:g.180659500T>G GRCh38
NC_000003.11:g.180377288T>G , CM000665.1:g.180377288T>G GRCh37
NC_000003.10:g.181859982T>G NCBI36
NG_029581.1:g.24996A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.690A>C MANE Select ENSP00000417960.2:p.Thr230=
ENST00000650641.1:n.769A>C
ENST00000650889.1:n.862A>C
ENST00000651046.1:c.690A>C ENSP00000499175.1:p.Thr230=
ENST00000651818.1:n.832A>C
ENST00000652024.1:n.781A>C
ENST00000652408.1:n.827A>C
ENST00000442201.6:c.690A>C ENSP00000405708.2:p.Thr230=
ENST00000476379.5:c.690A>C ENSP00000417960.1:p.Thr230=
NM_181426.1:c.690A>C NP_852091.1:p.Thr230=
NM_181426.2:c.690A>C MANE Select NP_852091.1:p.Thr230=