Canonical Allele Identifier: CA377098840
Community Standard Title: NM_021800.3(DNAJC12):c.158-2A>C
Gene: DNAJC12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811665T>G , CM000672.2:g.67811665T>G GRCh38
NC_000010.10:g.69571423T>G , CM000672.1:g.69571423T>G GRCh37
NC_000010.9:g.69241429T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021800.3:c.158-2A>C MANE Select NP_068572.1:n.158-2A>C
ENST00000225171.7:c.158-2A>C MANE Select ENSP00000225171.2:n.158-2A>C
NM_021800.2:c.158-2A>C NP_068572.1:n.158-2A>C
NM_201262.1:c.158-2A>C NP_957714.1:n.158-2A>C
NM_201262.2:c.158-2A>C NP_957714.1:n.158-2A>C
ENST00000225171.6:c.158-2A>C ENSP00000225171.2:n.158-2A>C
ENST00000339758.7:c.158-2A>C ENSP00000343575.6:n.158-2A>C
ENST00000480180.1:c.*177-2A>C ENSP00000474804.1:n.*177-2A>C
ENST00000480963.5:c.*78-2A>C ENSP00000473979.1:n.*78-2A>C
ENST00000483798.6:c.248-2A>C ENSP00000474215.1:n.248-2A>C
XM_011539967.1:c.188-2A>C XP_011538269.1:n.188-2A>C
XM_017016431.1:c.-89-2A>C XP_016871920.1:n.-89-2A>C
XM_017016432.2:c.-89-2A>C XP_016871921.1:n.-89-2A>C