Canonical Allele Identifier: CA5520873

Gene: DNAJC12

Linked Data

• ClinVar Variation Id: 1305071
• ClinVar RCV Id: RCV001773781 ; RCV002543982
• dbSNP Id: rs372922344
• ExAC: 10:69571355 T / C
• gnomAD v2: 10-69571355-T-C
• gnomAD v3: 10-67811597-T-C
• gnomAD v4: 10-67811597-T-C
• MyVariant Identifiers: chr10:g.69571355T>C (hg19) ; chr10:g.67811597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811597T>C , CM000672.2:g.67811597T>C	GRCh38
NC_000010.10:g.69571355T>C , CM000672.1:g.69571355T>C	GRCh37
NC_000010.9:g.69241361T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.224A>G MANE Select	ENSP00000225171.2:p.Tyr75Cys
ENST00000225171.6:c.224A>G	ENSP00000225171.2:p.Tyr75Cys
ENST00000339758.7:c.224A>G	ENSP00000343575.6:p.Tyr75Cys
ENST00000480180.1:c.*243A>G	ENSP00000474804.1:n.*243A>G
ENST00000480963.5:c.*144A>G	ENSP00000473979.1:n.*144A>G
ENST00000483798.6:c.314A>G	ENSP00000474215.1:p.Tyr105Cys
NM_021800.2:c.224A>G	NP_068572.1:p.Tyr75Cys
NM_201262.1:c.224A>G	NP_957714.1:p.Tyr75Cys
XM_011539967.1:c.254A>G	XP_011538269.1:p.Tyr85Cys
XM_017016431.1:c.-23A>G	XP_016871920.1:n.-23A>G
XM_017016432.2:c.-23A>G	XP_016871921.1:n.-23A>G
NM_021800.3:c.224A>G MANE Select	NP_068572.1:p.Tyr75Cys
NM_201262.2:c.224A>G	NP_957714.1:p.Tyr75Cys