Canonical Allele Identifier: CA377098654

Gene: DNAJC12

Linked Data

• dbSNP Id: rs3740049
• gnomAD v3: 10-67811578-G-T
• gnomAD v4: 10-67811578-G-T
• MyVariant Identifiers: chr10:g.69571336G>T (hg19) ; chr10:g.67811578G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811578G>T , CM000672.2:g.67811578G>T	GRCh38
NC_000010.10:g.69571336G>T , CM000672.1:g.69571336G>T	GRCh37
NC_000010.9:g.69241342G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.243C>A MANE Select	ENSP00000225171.2:p.Ser81Arg
ENST00000225171.6:c.243C>A	ENSP00000225171.2:p.Ser81Arg
ENST00000339758.7:c.243C>A	ENSP00000343575.6:p.Ser81Arg
ENST00000480180.1:c.*262C>A	ENSP00000474804.1:n.*262C>A
ENST00000480963.5:c.*163C>A	ENSP00000473979.1:n.*163C>A
ENST00000483798.6:c.333C>A	ENSP00000474215.1:p.Ser111Arg
NM_021800.2:c.243C>A	NP_068572.1:p.Ser81Arg
NM_201262.1:c.243C>A	NP_957714.1:p.Ser81Arg
XM_011539967.1:c.273C>A	XP_011538269.1:p.Ser91Arg
XM_017016431.1:c.-4C>A	XP_016871920.1:n.-4C>A
XM_017016432.2:c.-4C>A	XP_016871921.1:n.-4C>A
NM_021800.3:c.243C>A MANE Select	NP_068572.1:p.Ser81Arg
NM_201262.2:c.243C>A	NP_957714.1:p.Ser81Arg