Canonical Allele Identifier: CA377098618
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811564G>A , CM000672.2:g.67811564G>A GRCh38
NC_000010.10:g.69571322G>A , CM000672.1:g.69571322G>A GRCh37
NC_000010.9:g.69241328G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.257C>T MANE Select ENSP00000225171.2:p.Pro86Leu
ENST00000225171.6:c.257C>T ENSP00000225171.2:p.Pro86Leu
ENST00000339758.7:c.257C>T ENSP00000343575.6:p.Pro86Leu
ENST00000480180.1:c.*276C>T ENSP00000474804.1:n.*276C>T
ENST00000480963.5:c.*177C>T ENSP00000473979.1:n.*177C>T
ENST00000483798.6:c.347C>T ENSP00000474215.1:p.Pro116Leu
NM_021800.2:c.257C>T NP_068572.1:p.Pro86Leu
NM_201262.1:c.257C>T NP_957714.1:p.Pro86Leu
XM_011539967.1:c.287C>T XP_011538269.1:p.Pro96Leu
XM_017016431.1:c.11C>T XP_016871920.1:p.Pro4Leu
XM_017016432.2:c.11C>T XP_016871921.1:p.Pro4Leu
NM_021800.3:c.257C>T MANE Select NP_068572.1:p.Pro86Leu
NM_201262.2:c.257C>T NP_957714.1:p.Pro86Leu