Canonical Allele Identifier: CA4289910
Gene: DNAJC30 HGNC NCBI

Linked Data

ClinVar Variation Id: 3084581
ClinVar RCV Id: RCV004381444
dbSNP Id: rs782689807
ExAC: 7:73097297 C / A
gnomAD v2: 7-73097297-C-A
gnomAD v3: 7-73682967-C-A
gnomAD v4: 7-73682967-C-A
MyVariant Identifiers: chr7:g.73097297C>A (hg19) chr7:g.73682967C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682967C>A , CM000669.2:g.73682967C>A GRCh38
NC_000007.13:g.73097297C>A , CM000669.1:g.73097297C>A GRCh37
NC_000007.12:g.72735233C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.457G>T MANE Select ENSP00000378605.1:p.Ala153Ser
ENST00000395176.2:c.457G>T ENSP00000378605.1:p.Ala153Ser
NM_032317.2:c.457G>T NP_115693.2:p.Ala153Ser
NM_032317.3:c.457G>T MANE Select NP_115693.2:p.Ala153Ser
Search 100 bp 5'
Search 100 bp 3'