Canonical Allele Identifier: CA437080205
Gene: CCDC39 HGNC NCBI

Linked Data

gnomAD v4: 3-180659512-T-C
MyVariant Identifiers: chr3:g.180377300T>C (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.678A>G MANE Select ENSP00000417960.2:p.Gln226=
ENST00000650641.1:n.757A>G
ENST00000650889.1:n.850A>G
ENST00000651046.1:c.678A>G ENSP00000499175.1:p.Gln226=
ENST00000651818.1:n.820A>G
ENST00000652024.1:n.769A>G
ENST00000652408.1:n.815A>G
ENST00000442201.6:c.678A>G ENSP00000405708.2:p.Gln226=
ENST00000476379.5:c.678A>G ENSP00000417960.1:p.Gln226=
NM_181426.1:c.678A>G NP_852091.1:p.Gln226=
NM_181426.2:c.678A>G MANE Select NP_852091.1:p.Gln226=
Search 100 bp 5'
Search 100 bp 3'