Canonical Allele Identifier: CA377098631
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811568T>G , CM000672.2:g.67811568T>G GRCh38
NC_000010.10:g.69571326T>G , CM000672.1:g.69571326T>G GRCh37
NC_000010.9:g.69241332T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.253A>C MANE Select ENSP00000225171.2:p.Met85Leu
ENST00000225171.6:c.253A>C ENSP00000225171.2:p.Met85Leu
ENST00000339758.7:c.253A>C ENSP00000343575.6:p.Met85Leu
ENST00000480180.1:c.*272A>C ENSP00000474804.1:n.*272A>C
ENST00000480963.5:c.*173A>C ENSP00000473979.1:n.*173A>C
ENST00000483798.6:c.343A>C ENSP00000474215.1:p.Met115Leu
NM_021800.2:c.253A>C NP_068572.1:p.Met85Leu
NM_201262.1:c.253A>C NP_957714.1:p.Met85Leu
XM_011539967.1:c.283A>C XP_011538269.1:p.Met95Leu
XM_017016431.1:c.7A>C XP_016871920.1:p.Met3Leu
XM_017016432.2:c.7A>C XP_016871921.1:p.Met3Leu
NM_021800.3:c.253A>C MANE Select NP_068572.1:p.Met85Leu
NM_201262.2:c.253A>C NP_957714.1:p.Met85Leu