Canonical Allele Identifier: CA456052846
Gene: DNAJC30 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.73097337A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683007A>C , CM000669.2:g.73683007A>C GRCh38
NC_000007.13:g.73097337A>C , CM000669.1:g.73097337A>C GRCh37
NC_000007.12:g.72735273A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.417T>G MANE Select ENSP00000378605.1:p.Arg139=
ENST00000395176.2:c.417T>G ENSP00000378605.1:p.Arg139=
NM_032317.2:c.417T>G NP_115693.2:p.Arg139=
NM_032317.3:c.417T>G MANE Select NP_115693.2:p.Arg139=