Canonical Allele Identifier: CA469970057

Gene: DNAJC12

Linked Data

• dbSNP Id: rs1470968999
• gnomAD v2: 10-69571312-C-T
• gnomAD v4: 10-67811554-C-T
• MyVariant Identifiers: chr10:g.69571312C>T (hg19) ; chr10:g.67811554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811554C>T , CM000672.2:g.67811554C>T	GRCh38
NC_000010.10:g.69571312C>T , CM000672.1:g.69571312C>T	GRCh37
NC_000010.9:g.69241318C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.267G>A MANE Select	ENSP00000225171.2:p.Gln89=
ENST00000225171.6:c.267G>A	ENSP00000225171.2:p.Gln89=
ENST00000339758.7:c.267G>A	ENSP00000343575.6:p.Gln89=
ENST00000480180.1:c.*286G>A	ENSP00000474804.1:n.*286G>A
ENST00000480963.5:c.*187G>A	ENSP00000473979.1:n.*187G>A
ENST00000483798.6:c.357G>A	ENSP00000474215.1:p.Gln119=
NM_021800.2:c.267G>A	NP_068572.1:p.Gln89=
NM_201262.1:c.267G>A	NP_957714.1:p.Gln89=
XM_011539967.1:c.297G>A	XP_011538269.1:p.Gln99=
XM_017016431.1:c.21G>A	XP_016871920.1:p.Gln7=
XM_017016432.2:c.21G>A	XP_016871921.1:p.Gln7=
NM_021800.3:c.267G>A MANE Select	NP_068572.1:p.Gln89=
NM_201262.2:c.267G>A	NP_957714.1:p.Gln89=