Canonical Allele Identifier: CA4289915
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs782524944
ExAC: 7:73097311 T / C
gnomAD v2: 7-73097311-T-C
gnomAD v3: 7-73682981-T-C
gnomAD v4: 7-73682981-T-C
MyVariant Identifiers: chr7:g.73097311T>C (hg19) chr7:g.73682981T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682981T>C , CM000669.2:g.73682981T>C GRCh38
NC_000007.13:g.73097311T>C , CM000669.1:g.73097311T>C GRCh37
NC_000007.12:g.72735247T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.443A>G MANE Select ENSP00000378605.1:p.His148Arg
ENST00000395176.2:c.443A>G ENSP00000378605.1:p.His148Arg
NM_032317.2:c.443A>G NP_115693.2:p.His148Arg
NM_032317.3:c.443A>G MANE Select NP_115693.2:p.His148Arg
Search 100 bp 5'
Search 100 bp 3'