Canonical Allele Identifier: CA377098748
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811624A>C , CM000672.2:g.67811624A>C GRCh38
NC_000010.10:g.69571382A>C , CM000672.1:g.69571382A>C GRCh37
NC_000010.9:g.69241388A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.197T>G MANE Select ENSP00000225171.2:p.Leu66Arg
ENST00000225171.6:c.197T>G ENSP00000225171.2:p.Leu66Arg
ENST00000339758.7:c.197T>G ENSP00000343575.6:p.Leu66Arg
ENST00000480180.1:c.*216T>G ENSP00000474804.1:n.*216T>G
ENST00000480963.5:c.*117T>G ENSP00000473979.1:n.*117T>G
ENST00000483798.6:c.287T>G ENSP00000474215.1:p.Leu96Arg
NM_021800.2:c.197T>G NP_068572.1:p.Leu66Arg
NM_201262.1:c.197T>G NP_957714.1:p.Leu66Arg
XM_011539967.1:c.227T>G XP_011538269.1:p.Leu76Arg
XM_017016431.1:c.-50T>G XP_016871920.1:n.-50T>G
XM_017016432.2:c.-50T>G XP_016871921.1:n.-50T>G
NM_021800.3:c.197T>G MANE Select NP_068572.1:p.Leu66Arg
NM_201262.2:c.197T>G NP_957714.1:p.Leu66Arg