Canonical Allele Identifier: CA209166006

Gene: DNAJC12

Linked Data

• dbSNP Id: rs932899778
• gnomAD v2: 10-69571360-G-T
• gnomAD v3: 10-67811602-G-T
• gnomAD v4: 10-67811602-G-T
• MyVariant Identifiers: chr10:g.69571360G>T (hg19) ; chr10:g.67811602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811602G>T , CM000672.2:g.67811602G>T	GRCh38
NC_000010.10:g.69571360G>T , CM000672.1:g.69571360G>T	GRCh37
NC_000010.9:g.69241366G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.219C>A MANE Select	ENSP00000225171.2:p.Ala73=
ENST00000225171.6:c.219C>A	ENSP00000225171.2:p.Ala73=
ENST00000339758.7:c.219C>A	ENSP00000343575.6:p.Ala73=
ENST00000480180.1:c.*238C>A	ENSP00000474804.1:n.*238C>A
ENST00000480963.5:c.*139C>A	ENSP00000473979.1:n.*139C>A
ENST00000483798.6:c.309C>A	ENSP00000474215.1:p.Ala103=
NM_021800.2:c.219C>A	NP_068572.1:p.Ala73=
NM_201262.1:c.219C>A	NP_957714.1:p.Ala73=
XM_011539967.1:c.249C>A	XP_011538269.1:p.Ala83=
XM_017016431.1:c.-28C>A	XP_016871920.1:n.-28C>A
XM_017016432.2:c.-28C>A	XP_016871921.1:n.-28C>A
NM_021800.3:c.219C>A MANE Select	NP_068572.1:p.Ala73=
NM_201262.2:c.219C>A	NP_957714.1:p.Ala73=