Canonical Allele Identifier: CA5520851

Gene: DNAJC12

Linked Data

• ClinVar Variation Id: 1897576
• ClinVar RCV Id: RCV002572092
• dbSNP Id: rs746006867
• ExAC: 10:69571270 C / T
• gnomAD v2: 10-69571270-C-T
• gnomAD v3: 10-67811512-C-T
• gnomAD v4: 10-67811512-C-T
• MyVariant Identifiers: chr10:g.69571270C>T (hg19) ; chr10:g.67811512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811512C>T , CM000672.2:g.67811512C>T	GRCh38
NC_000010.10:g.69571270C>T , CM000672.1:g.69571270C>T	GRCh37
NC_000010.9:g.69241276C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000225171.7:c.297+12G>A MANE Select	ENSP00000225171.2:n.297+12G>A
ENST00000225171.6:c.297+12G>A	ENSP00000225171.2:n.297+12G>A
ENST00000339758.7:c.309G>A	ENSP00000343575.6:p.Ser103=
ENST00000480963.5:c.*217+12G>A	ENSP00000473979.1:n.*217+12G>A
ENST00000483798.6:c.387+12G>A	ENSP00000474215.1:n.387+12G>A
NM_021800.2:c.297+12G>A	NP_068572.1:n.297+12G>A
NM_201262.1:c.309G>A	NP_957714.1:p.Ser103=
XM_011539967.1:c.327+12G>A	XP_011538269.1:n.327+12G>A
XM_017016431.1:c.51+12G>A	XP_016871920.1:n.51+12G>A
XM_017016432.2:c.51+12G>A	XP_016871921.1:n.51+12G>A
NM_021800.3:c.297+12G>A MANE Select	NP_068572.1:n.297+12G>A
NM_201262.2:c.309G>A	NP_957714.1:p.Ser103=