Canonical Allele Identifier: CA5520889
Gene: DNAJC12 HGNC NCBI
ClinVar RCV:
RCV000445360
ClinVar Variation:
393303
dbSNP:
775029664
gnomAD v2:
10:69571423 T / A
gnomAD v4:
chr10-67811665-T-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr10:g.67811665T>A
GRCh37 chr10:g.69571423T>A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811665T>A , CM000672.2:g.67811665T>A GRCh38
NC_000010.10:g.69571423T>A , CM000672.1:g.69571423T>A GRCh37
NC_000010.9:g.69241429T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.158-2A>T MANE Select ENSP00000225171.2:n.158-2A>T
ENST00000225171.6:c.158-2A>T ENSP00000225171.2:n.158-2A>T
ENST00000339758.7:c.158-2A>T ENSP00000343575.6:n.158-2A>T
ENST00000480180.1:c.*177-2A>T ENSP00000474804.1:n.*177-2A>T
ENST00000480963.5:c.*78-2A>T ENSP00000473979.1:n.*78-2A>T
ENST00000483798.6:c.248-2A>T ENSP00000474215.1:n.248-2A>T
NM_021800.2:c.158-2A>T NP_068572.1:n.158-2A>T
NM_201262.1:c.158-2A>T NP_957714.1:n.158-2A>T
XM_011539967.1:c.188-2A>T XP_011538269.1:n.188-2A>T
XM_017016431.1:c.-89-2A>T XP_016871920.1:n.-89-2A>T
XM_017016432.2:c.-89-2A>T XP_016871921.1:n.-89-2A>T
NM_021800.3:c.158-2A>T MANE Select NP_068572.1:n.158-2A>T
NM_201262.2:c.158-2A>T NP_957714.1:n.158-2A>T
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