Canonical Allele Identifier: CA377098545

Gene: DNAJC12

Linked Data

• gnomAD v4: 10-67811532-C-A
• COSMIC: COSM6130208 ; COSM6130209
• MyVariant Identifiers: chr10:g.69571290C>A (hg19) ; chr10:g.67811532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811532C>A , CM000672.2:g.67811532C>A	GRCh38
NC_000010.10:g.69571290C>A , CM000672.1:g.69571290C>A	GRCh37
NC_000010.9:g.69241296C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.289G>T MANE Select	ENSP00000225171.2:p.Val97Leu
ENST00000225171.6:c.289G>T	ENSP00000225171.2:p.Val97Leu
ENST00000339758.7:c.289G>T	ENSP00000343575.6:p.Val97Leu
ENST00000480180.1:c.*308G>T	ENSP00000474804.1:n.*308G>T
ENST00000480963.5:c.*209G>T	ENSP00000473979.1:n.*209G>T
ENST00000483798.6:c.379G>T	ENSP00000474215.1:p.Val127Leu
NM_021800.2:c.289G>T	NP_068572.1:p.Val97Leu
NM_201262.1:c.289G>T	NP_957714.1:p.Val97Leu
XM_011539967.1:c.319G>T	XP_011538269.1:p.Val107Leu
XM_017016431.1:c.43G>T	XP_016871920.1:p.Val15Leu
XM_017016432.2:c.43G>T	XP_016871921.1:p.Val15Leu
NM_021800.3:c.289G>T MANE Select	NP_068572.1:p.Val97Leu
NM_201262.2:c.289G>T	NP_957714.1:p.Val97Leu