Canonical Allele Identifier: CA5520852

Gene: DNAJC12

Linked Data

• dbSNP Id: rs772064660
• ExAC: 10:69571282 C / T
• gnomAD v2: 10-69571282-C-T
• gnomAD v3: 10-67811524-C-T
• gnomAD v4: 10-67811524-C-T
• MyVariant Identifiers: chr10:g.69571282C>T (hg19) ; chr10:g.67811524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811524C>T , CM000672.2:g.67811524C>T	GRCh38
NC_000010.10:g.69571282C>T , CM000672.1:g.69571282C>T	GRCh37
NC_000010.9:g.69241288C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.297G>A MANE Select	ENSP00000225171.2:p.Thr99=
ENST00000225171.6:c.297G>A	ENSP00000225171.2:p.Thr99=
ENST00000339758.7:c.297G>A	ENSP00000343575.6:p.Thr99=
ENST00000480963.5:c.*217G>A	ENSP00000473979.1:n.*217G>A
ENST00000483798.6:c.387G>A	ENSP00000474215.1:p.Thr129=
NM_021800.2:c.297G>A	NP_068572.1:p.Thr99=
NM_201262.1:c.297G>A	NP_957714.1:p.Thr99=
XM_011539967.1:c.327G>A	XP_011538269.1:p.Thr109=
XM_017016431.1:c.51G>A	XP_016871920.1:p.Thr17=
XM_017016432.2:c.51G>A	XP_016871921.1:p.Thr17=
NM_021800.3:c.297G>A MANE Select	NP_068572.1:p.Thr99=
NM_201262.2:c.297G>A	NP_957714.1:p.Thr99=