Canonical Allele Identifier: CA5520862

Gene: DNAJC12

Linked Data

• dbSNP Id: rs759047670
• ExAC: 10:69571321 T / C
• gnomAD v2: 10-69571321-T-C
• gnomAD v4: 10-67811563-T-C
• MyVariant Identifiers: chr10:g.69571321T>C (hg19) ; chr10:g.67811563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811563T>C , CM000672.2:g.67811563T>C	GRCh38
NC_000010.10:g.69571321T>C , CM000672.1:g.69571321T>C	GRCh37
NC_000010.9:g.69241327T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.258A>G MANE Select	ENSP00000225171.2:p.Pro86=
ENST00000225171.6:c.258A>G	ENSP00000225171.2:p.Pro86=
ENST00000339758.7:c.258A>G	ENSP00000343575.6:p.Pro86=
ENST00000480180.1:c.*277A>G	ENSP00000474804.1:n.*277A>G
ENST00000480963.5:c.*178A>G	ENSP00000473979.1:n.*178A>G
ENST00000483798.6:c.348A>G	ENSP00000474215.1:p.Pro116=
NM_021800.2:c.258A>G	NP_068572.1:p.Pro86=
NM_201262.1:c.258A>G	NP_957714.1:p.Pro86=
XM_011539967.1:c.288A>G	XP_011538269.1:p.Pro96=
XM_017016431.1:c.12A>G	XP_016871920.1:p.Pro4=
XM_017016432.2:c.12A>G	XP_016871921.1:p.Pro4=
NM_021800.3:c.258A>G MANE Select	NP_068572.1:p.Pro86=
NM_201262.2:c.258A>G	NP_957714.1:p.Pro86=