Canonical Allele Identifier: CA5520865

Gene: DNAJC12

Linked Data

• ClinVar Variation Id: 2640518
• ClinVar RCV Id: RCV003417432
• dbSNP Id: rs202186686
• ExAC: 10:69571327 C / G
• gnomAD v2: 10-69571327-C-G
• gnomAD v3: 10-67811569-C-G
• gnomAD v4: 10-67811569-C-G
• MyVariant Identifiers: chr10:g.69571327C>G (hg19) ; chr10:g.67811569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811569C>G , CM000672.2:g.67811569C>G	GRCh38
NC_000010.10:g.69571327C>G , CM000672.1:g.69571327C>G	GRCh37
NC_000010.9:g.69241333C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.252G>C MANE Select	ENSP00000225171.2:p.Ser84=
ENST00000225171.6:c.252G>C	ENSP00000225171.2:p.Ser84=
ENST00000339758.7:c.252G>C	ENSP00000343575.6:p.Ser84=
ENST00000480180.1:c.*271G>C	ENSP00000474804.1:n.*271G>C
ENST00000480963.5:c.*172G>C	ENSP00000473979.1:n.*172G>C
ENST00000483798.6:c.342G>C	ENSP00000474215.1:p.Ser114=
NM_021800.2:c.252G>C	NP_068572.1:p.Ser84=
NM_201262.1:c.252G>C	NP_957714.1:p.Ser84=
XM_011539967.1:c.282G>C	XP_011538269.1:p.Ser94=
XM_017016431.1:c.6G>C	XP_016871920.1:p.Ser2=
XM_017016432.2:c.6G>C	XP_016871921.1:p.Ser2=
NM_021800.3:c.252G>C MANE Select	NP_068572.1:p.Ser84=
NM_201262.2:c.252G>C	NP_957714.1:p.Ser84=