Canonical Allele Identifier: CA145377

Gene: DNAJC6

Linked Data

• ClinVar Variation Id: 88854
• ClinVar RCV Id: RCV000074442 ; RCV001030777
• dbSNP Id: rs398122404
• gnomAD v4: 1-65385710-A-G
• MyVariant Identifiers: chr1:g.65851393A>G (hg19) ; chr1:g.65385710A>G (hg38)
• PubMed: PMID:22563501 ; PMID:24220513

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65385710A>G , CM000663.2:g.65385710A>G	GRCh38
NC_000001.10:g.65851393A>G , CM000663.1:g.65851393A>G	GRCh37
NC_000001.9:g.65623981A>G	NCBI36
NG_033843.1:g.126017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371069.5:c.801-2A>G MANE Select	ENSP00000360108.4:n.801-2A>G
ENST00000263441.11:c.591-2A>G	ENSP00000263441.7:n.591-2A>G
ENST00000371069.4:c.801-2A>G	ENSP00000360108.4:n.801-2A>G
ENST00000395325.7:c.630-2A>G	ENSP00000378735.3:n.630-2A>G
ENST00000494710.6:c.723-2A>G	ENSP00000473821.1:n.723-2A>G
ENST00000498720.1:n.242-2A>G
NM_001256864.1:c.801-2A>G	NP_001243793.1:n.801-2A>G
NM_001256865.1:c.591-2A>G	NP_001243794.1:n.591-2A>G
NM_014787.3:c.630-2A>G	NP_055602.1:n.630-2A>G
XM_011542483.1:c.750-2A>G	XP_011540785.1:n.750-2A>G
XM_011542484.1:c.723-2A>G	XP_011540786.1:n.723-2A>G
XM_011542485.1:c.636-2A>G	XP_011540787.1:n.636-2A>G
XM_011542486.1:c.591-2A>G	XP_011540788.1:n.591-2A>G
XM_011542487.1:c.591-2A>G	XP_011540789.1:n.591-2A>G
XM_011542488.1:c.591-2A>G	XP_011540790.1:n.591-2A>G
XM_011542489.1:c.156-2A>G	XP_011540791.1:n.156-2A>G
NM_001256864.2:c.801-2A>G MANE Select	NP_001243793.1:n.801-2A>G
NM_014787.4:c.630-2A>G	NP_055602.1:n.630-2A>G
NM_001256865.2:c.591-2A>G	NP_001243794.1:n.591-2A>G