Canonical Allele Identifier: CA456052889
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs1271710344
gnomAD v3: 7-73683022-G-A
gnomAD v4: 7-73683022-G-A
MyVariant Identifiers: chr7:g.73097352G>A (hg19) chr7:g.73683022G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683022G>A , CM000669.2:g.73683022G>A GRCh38
NC_000007.13:g.73097352G>A , CM000669.1:g.73097352G>A GRCh37
NC_000007.12:g.72735288G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.402C>T MANE Select ENSP00000378605.1:p.Asp134=
ENST00000395176.2:c.402C>T ENSP00000378605.1:p.Asp134=
NM_032317.2:c.402C>T NP_115693.2:p.Asp134=
NM_032317.3:c.402C>T MANE Select NP_115693.2:p.Asp134=
Search 100 bp 5'
Search 100 bp 3'