Canonical Allele Identifier: CA456052849
Gene: DNAJC30 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.73097340C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683010C>T , CM000669.2:g.73683010C>T GRCh38
NC_000007.13:g.73097340C>T , CM000669.1:g.73097340C>T GRCh37
NC_000007.12:g.72735276C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.414G>A MANE Select ENSP00000378605.1:p.Pro138=
ENST00000395176.2:c.414G>A ENSP00000378605.1:p.Pro138=
NM_032317.2:c.414G>A NP_115693.2:p.Pro138=
NM_032317.3:c.414G>A MANE Select NP_115693.2:p.Pro138=