Canonical Allele Identifier: CA377098528
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811523C>G , CM000672.2:g.67811523C>G GRCh38
NC_000010.10:g.69571281C>G , CM000672.1:g.69571281C>G GRCh37
NC_000010.9:g.69241287C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.297+1G>C MANE Select ENSP00000225171.2:n.297+1G>C
ENST00000225171.6:c.297+1G>C ENSP00000225171.2:n.297+1G>C
ENST00000339758.7:c.298G>C ENSP00000343575.6:p.Val100Leu
ENST00000480963.5:c.*217+1G>C ENSP00000473979.1:n.*217+1G>C
ENST00000483798.6:c.387+1G>C ENSP00000474215.1:n.387+1G>C
NM_021800.2:c.297+1G>C NP_068572.1:n.297+1G>C
NM_201262.1:c.298G>C NP_957714.1:p.Val100Leu
XM_011539967.1:c.327+1G>C XP_011538269.1:n.327+1G>C
XM_017016431.1:c.51+1G>C XP_016871920.1:n.51+1G>C
XM_017016432.2:c.51+1G>C XP_016871921.1:n.51+1G>C
NM_021800.3:c.297+1G>C MANE Select NP_068572.1:n.297+1G>C
NM_201262.2:c.298G>C NP_957714.1:p.Val100Leu