Canonical Allele Identifier: CA377098596
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811555T>A , CM000672.2:g.67811555T>A GRCh38
NC_000010.10:g.69571313T>A , CM000672.1:g.69571313T>A GRCh37
NC_000010.9:g.69241319T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.266A>T MANE Select ENSP00000225171.2:p.Gln89Leu
ENST00000225171.6:c.266A>T ENSP00000225171.2:p.Gln89Leu
ENST00000339758.7:c.266A>T ENSP00000343575.6:p.Gln89Leu
ENST00000480180.1:c.*285A>T ENSP00000474804.1:n.*285A>T
ENST00000480963.5:c.*186A>T ENSP00000473979.1:n.*186A>T
ENST00000483798.6:c.356A>T ENSP00000474215.1:p.Gln119Leu
NM_021800.2:c.266A>T NP_068572.1:p.Gln89Leu
NM_201262.1:c.266A>T NP_957714.1:p.Gln89Leu
XM_011539967.1:c.296A>T XP_011538269.1:p.Gln99Leu
XM_017016431.1:c.20A>T XP_016871920.1:p.Gln7Leu
XM_017016432.2:c.20A>T XP_016871921.1:p.Gln7Leu
NM_021800.3:c.266A>T MANE Select NP_068572.1:p.Gln89Leu
NM_201262.2:c.266A>T NP_957714.1:p.Gln89Leu