Canonical Allele Identifier: CA469970064

Gene: DNAJC12

Linked Data

• dbSNP Id: rs1222336004
• gnomAD v4: 10-67811581-C-T
• MyVariant Identifiers: chr10:g.69571339C>T (hg19) ; chr10:g.67811581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811581C>T , CM000672.2:g.67811581C>T	GRCh38
NC_000010.10:g.69571339C>T , CM000672.1:g.69571339C>T	GRCh37
NC_000010.9:g.69241345C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.240G>A MANE Select	ENSP00000225171.2:p.Arg80=
ENST00000225171.6:c.240G>A	ENSP00000225171.2:p.Arg80=
ENST00000339758.7:c.240G>A	ENSP00000343575.6:p.Arg80=
ENST00000480180.1:c.*259G>A	ENSP00000474804.1:n.*259G>A
ENST00000480963.5:c.*160G>A	ENSP00000473979.1:n.*160G>A
ENST00000483798.6:c.330G>A	ENSP00000474215.1:p.Arg110=
NM_021800.2:c.240G>A	NP_068572.1:p.Arg80=
NM_201262.1:c.240G>A	NP_957714.1:p.Arg80=
XM_011539967.1:c.270G>A	XP_011538269.1:p.Arg90=
XM_017016431.1:c.-7G>A	XP_016871920.1:n.-7G>A
XM_017016432.2:c.-7G>A	XP_016871921.1:n.-7G>A
NM_021800.3:c.240G>A MANE Select	NP_068572.1:p.Arg80=
NM_201262.2:c.240G>A	NP_957714.1:p.Arg80=