Canonical Allele Identifier: CA377098574
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811546G>A , CM000672.2:g.67811546G>A GRCh38
NC_000010.10:g.69571304G>A , CM000672.1:g.69571304G>A GRCh37
NC_000010.9:g.69241310G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.275C>T MANE Select ENSP00000225171.2:p.Ala92Val
ENST00000225171.6:c.275C>T ENSP00000225171.2:p.Ala92Val
ENST00000339758.7:c.275C>T ENSP00000343575.6:p.Ala92Val
ENST00000480180.1:c.*294C>T ENSP00000474804.1:n.*294C>T
ENST00000480963.5:c.*195C>T ENSP00000473979.1:n.*195C>T
ENST00000483798.6:c.365C>T ENSP00000474215.1:p.Ala122Val
NM_021800.2:c.275C>T NP_068572.1:p.Ala92Val
NM_201262.1:c.275C>T NP_957714.1:p.Ala92Val
XM_011539967.1:c.305C>T XP_011538269.1:p.Ala102Val
XM_017016431.1:c.29C>T XP_016871920.1:p.Ala10Val
XM_017016432.2:c.29C>T XP_016871921.1:p.Ala10Val
NM_021800.3:c.275C>T MANE Select NP_068572.1:p.Ala92Val
NM_201262.2:c.275C>T NP_957714.1:p.Ala92Val