Canonical Allele Identifier: CA4289921
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs782369574
ExAC: 7:73097325 G / T
gnomAD v2: 7-73097325-G-T
gnomAD v4: 7-73682995-G-T
MyVariant Identifiers: chr7:g.73097325G>T (hg19) chr7:g.73682995G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682995G>T , CM000669.2:g.73682995G>T GRCh38
NC_000007.13:g.73097325G>T , CM000669.1:g.73097325G>T GRCh37
NC_000007.12:g.72735261G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.429C>A MANE Select ENSP00000378605.1:p.Pro143=
ENST00000395176.2:c.429C>A ENSP00000378605.1:p.Pro143=
NM_032317.2:c.429C>A NP_115693.2:p.Pro143=
NM_032317.3:c.429C>A MANE Select NP_115693.2:p.Pro143=
Search 100 bp 5'
Search 100 bp 3'