Canonical Allele Identifier: CA456052779
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs782544618
gnomAD v2: 7-73097307-G-A
gnomAD v4: 7-73682977-G-A
MyVariant Identifiers: chr7:g.73097307G>A (hg19) chr7:g.73682977G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682977G>A , CM000669.2:g.73682977G>A GRCh38
NC_000007.13:g.73097307G>A , CM000669.1:g.73097307G>A GRCh37
NC_000007.12:g.72735243G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.447C>T MANE Select ENSP00000378605.1:p.Asp149=
ENST00000395176.2:c.447C>T ENSP00000378605.1:p.Asp149=
NM_032317.2:c.447C>T NP_115693.2:p.Asp149=
NM_032317.3:c.447C>T MANE Select NP_115693.2:p.Asp149=
Search 100 bp 5'
Search 100 bp 3'