Canonical Allele Identifier: CA4289928
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs782033892
ExAC: 7:73097353 T / G
gnomAD v2: 7-73097353-T-G
gnomAD v3: 7-73683023-T-G
gnomAD v4: 7-73683023-T-G
MyVariant Identifiers: chr7:g.73097353T>G (hg19) chr7:g.73683023T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683023T>G , CM000669.2:g.73683023T>G GRCh38
NC_000007.13:g.73097353T>G , CM000669.1:g.73097353T>G GRCh37
NC_000007.12:g.72735289T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.401A>C MANE Select ENSP00000378605.1:p.Asp134Ala
ENST00000395176.2:c.401A>C ENSP00000378605.1:p.Asp134Ala
NM_032317.2:c.401A>C NP_115693.2:p.Asp134Ala
NM_032317.3:c.401A>C MANE Select NP_115693.2:p.Asp134Ala
Search 100 bp 5'
Search 100 bp 3'