Canonical Allele Identifier: CA5520869

Gene: DNAJC12

Linked Data

• ClinVar Variation Id: 758174
• ClinVar RCV Id: RCV000935865 ; RCV003933193
• dbSNP Id: rs150257519
• ExAC: 10:69571342 T / C
• gnomAD v2: 10-69571342-T-C
• gnomAD v3: 10-67811584-T-C
• gnomAD v4: 10-67811584-T-C
• MyVariant Identifiers: chr10:g.69571342T>C (hg19) ; chr10:g.67811584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811584T>C , CM000672.2:g.67811584T>C	GRCh38
NC_000010.10:g.69571342T>C , CM000672.1:g.69571342T>C	GRCh37
NC_000010.9:g.69241348T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.237A>G MANE Select	ENSP00000225171.2:p.Arg79=
ENST00000225171.6:c.237A>G	ENSP00000225171.2:p.Arg79=
ENST00000339758.7:c.237A>G	ENSP00000343575.6:p.Arg79=
ENST00000480180.1:c.*256A>G	ENSP00000474804.1:n.*256A>G
ENST00000480963.5:c.*157A>G	ENSP00000473979.1:n.*157A>G
ENST00000483798.6:c.327A>G	ENSP00000474215.1:p.Arg109=
NM_021800.2:c.237A>G	NP_068572.1:p.Arg79=
NM_201262.1:c.237A>G	NP_957714.1:p.Arg79=
XM_011539967.1:c.267A>G	XP_011538269.1:p.Arg89=
XM_017016431.1:c.-10A>G	XP_016871920.1:n.-10A>G
XM_017016432.2:c.-10A>G	XP_016871921.1:n.-10A>G
NM_021800.3:c.237A>G MANE Select	NP_068572.1:p.Arg79=
NM_201262.2:c.237A>G	NP_957714.1:p.Arg79=