Canonical Allele Identifier: CA367826639
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73683011-G-A
MyVariant Identifiers: chr7:g.73097341G>A (hg19) chr7:g.73683011G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683011G>A , CM000669.2:g.73683011G>A GRCh38
NC_000007.13:g.73097341G>A , CM000669.1:g.73097341G>A GRCh37
NC_000007.12:g.72735277G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.413C>T MANE Select ENSP00000378605.1:p.Pro138Leu
ENST00000395176.2:c.413C>T ENSP00000378605.1:p.Pro138Leu
NM_032317.2:c.413C>T NP_115693.2:p.Pro138Leu
NM_032317.3:c.413C>T MANE Select NP_115693.2:p.Pro138Leu
Search 100 bp 5'
Search 100 bp 3'