Canonical Allele Identifier: CA377098709
Gene: DNAJC12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67811606C>A , CM000672.2:g.67811606C>A GRCh38
NC_000010.10:g.69571364C>A , CM000672.1:g.69571364C>A GRCh37
NC_000010.9:g.69241370C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000225171.7:c.215G>T MANE Select ENSP00000225171.2:p.Arg72Leu
ENST00000225171.6:c.215G>T ENSP00000225171.2:p.Arg72Leu
ENST00000339758.7:c.215G>T ENSP00000343575.6:p.Arg72Leu
ENST00000480180.1:c.*234G>T ENSP00000474804.1:n.*234G>T
ENST00000480963.5:c.*135G>T ENSP00000473979.1:n.*135G>T
ENST00000483798.6:c.305G>T ENSP00000474215.1:p.Arg102Leu
NM_021800.2:c.215G>T NP_068572.1:p.Arg72Leu
NM_201262.1:c.215G>T NP_957714.1:p.Arg72Leu
XM_011539967.1:c.245G>T XP_011538269.1:p.Arg82Leu
XM_017016431.1:c.-32G>T XP_016871920.1:n.-32G>T
XM_017016432.2:c.-32G>T XP_016871921.1:n.-32G>T
NM_021800.3:c.215G>T MANE Select NP_068572.1:p.Arg72Leu
NM_201262.2:c.215G>T NP_957714.1:p.Arg72Leu