Canonical Allele Identifier: CA377098590

Gene: DNAJC12

Linked Data

• dbSNP Id: rs1215425856
• gnomAD v2: 10-69571310-C-T
• gnomAD v3: 10-67811552-C-T
• gnomAD v4: 10-67811552-C-T
• MyVariant Identifiers: chr10:g.69571310C>T (hg19) ; chr10:g.67811552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.67811552C>T , CM000672.2:g.67811552C>T	GRCh38
NC_000010.10:g.69571310C>T , CM000672.1:g.69571310C>T	GRCh37
NC_000010.9:g.69241316C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225171.7:c.269G>A MANE Select	ENSP00000225171.2:p.Trp90Ter
ENST00000225171.6:c.269G>A	ENSP00000225171.2:p.Trp90Ter
ENST00000339758.7:c.269G>A	ENSP00000343575.6:p.Trp90Ter
ENST00000480180.1:c.*288G>A	ENSP00000474804.1:n.*288G>A
ENST00000480963.5:c.*189G>A	ENSP00000473979.1:n.*189G>A
ENST00000483798.6:c.359G>A	ENSP00000474215.1:p.Trp120Ter
NM_021800.2:c.269G>A	NP_068572.1:p.Trp90Ter
NM_201262.1:c.269G>A	NP_957714.1:p.Trp90Ter
XM_011539967.1:c.299G>A	XP_011538269.1:p.Trp100Ter
XM_017016431.1:c.23G>A	XP_016871920.1:p.Trp8Ter
XM_017016432.2:c.23G>A	XP_016871921.1:p.Trp8Ter
NM_021800.3:c.269G>A MANE Select	NP_068572.1:p.Trp90Ter
NM_201262.2:c.269G>A	NP_957714.1:p.Trp90Ter