Canonical Allele Identifier: CA377098568
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811543A>G , CM000672.2:g.67811543A>G GRCh38
NC_000010.10:g.69571301A>G , CM000672.1:g.69571301A>G GRCh37
NC_000010.9:g.69241307A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225171.7:c.278T>C MANE Select ENSP00000225171.2:p.Leu93Ser
ENST00000225171.6:c.278T>C ENSP00000225171.2:p.Leu93Ser
ENST00000339758.7:c.278T>C ENSP00000343575.6:p.Leu93Ser
ENST00000480180.1:c.*297T>C ENSP00000474804.1:n.*297T>C
ENST00000480963.5:c.*198T>C ENSP00000473979.1:n.*198T>C
ENST00000483798.6:c.368T>C ENSP00000474215.1:p.Leu123Ser
NM_021800.2:c.278T>C NP_068572.1:p.Leu93Ser
NM_201262.1:c.278T>C NP_957714.1:p.Leu93Ser
XM_011539967.1:c.308T>C XP_011538269.1:p.Leu103Ser
XM_017016431.1:c.32T>C XP_016871920.1:p.Leu11Ser
XM_017016432.2:c.32T>C XP_016871921.1:p.Leu11Ser
NM_021800.3:c.278T>C MANE Select NP_068572.1:p.Leu93Ser
NM_201262.2:c.278T>C NP_957714.1:p.Leu93Ser