Canonical Allele Identifier: CA16609234
Gene: DNAJC12 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811606C>G , CM000672.2:g.67811606C>G GRCh38
NC_000010.10:g.69571364C>G , CM000672.1:g.69571364C>G GRCh37
NC_000010.9:g.69241370C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.215G>C MANE Select ENSP00000225171.2:p.Arg72Pro
ENST00000225171.6:c.215G>C ENSP00000225171.2:p.Arg72Pro
ENST00000339758.7:c.215G>C ENSP00000343575.6:p.Arg72Pro
ENST00000480180.1:c.*234G>C ENSP00000474804.1:n.*234G>C
ENST00000480963.5:c.*135G>C ENSP00000473979.1:n.*135G>C
ENST00000483798.6:c.305G>C ENSP00000474215.1:p.Arg102Pro
NM_021800.2:c.215G>C NP_068572.1:p.Arg72Pro
NM_201262.1:c.215G>C NP_957714.1:p.Arg72Pro
XM_011539967.1:c.245G>C XP_011538269.1:p.Arg82Pro
XM_017016431.1:c.-32G>C XP_016871920.1:n.-32G>C
XM_017016432.2:c.-32G>C XP_016871921.1:n.-32G>C
NM_021800.3:c.215G>C MANE Select NP_068572.1:p.Arg72Pro
NM_201262.2:c.215G>C NP_957714.1:p.Arg72Pro