Canonical Allele Identifier: CA377098633
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811571A>C , CM000672.2:g.67811571A>C GRCh38
NC_000010.10:g.69571329A>C , CM000672.1:g.69571329A>C GRCh37
NC_000010.9:g.69241335A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.250T>G MANE Select ENSP00000225171.2:p.Ser84Ala
ENST00000225171.6:c.250T>G ENSP00000225171.2:p.Ser84Ala
ENST00000339758.7:c.250T>G ENSP00000343575.6:p.Ser84Ala
ENST00000480180.1:c.*269T>G ENSP00000474804.1:n.*269T>G
ENST00000480963.5:c.*170T>G ENSP00000473979.1:n.*170T>G
ENST00000483798.6:c.340T>G ENSP00000474215.1:p.Ser114Ala
NM_021800.2:c.250T>G NP_068572.1:p.Ser84Ala
NM_201262.1:c.250T>G NP_957714.1:p.Ser84Ala
XM_011539967.1:c.280T>G XP_011538269.1:p.Ser94Ala
XM_017016431.1:c.4T>G XP_016871920.1:p.Ser2Ala
XM_017016432.2:c.4T>G XP_016871921.1:p.Ser2Ala
NM_021800.3:c.250T>G MANE Select NP_068572.1:p.Ser84Ala
NM_201262.2:c.250T>G NP_957714.1:p.Ser84Ala