Canonical Allele Identifier: CA367826500
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs1418931872
gnomAD v2: 7-73097317-C-T
gnomAD v3: 7-73682987-C-T
gnomAD v4: 7-73682987-C-T
MyVariant Identifiers: chr7:g.73097317C>T (hg19) chr7:g.73682987C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682987C>T , CM000669.2:g.73682987C>T GRCh38
NC_000007.13:g.73097317C>T , CM000669.1:g.73097317C>T GRCh37
NC_000007.12:g.72735253C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.437G>A MANE Select ENSP00000378605.1:p.Arg146Gln
ENST00000395176.2:c.437G>A ENSP00000378605.1:p.Arg146Gln
NM_032317.2:c.437G>A NP_115693.2:p.Arg146Gln
NM_032317.3:c.437G>A MANE Select NP_115693.2:p.Arg146Gln
Search 100 bp 5'
Search 100 bp 3'