Canonical Allele Identifier: CA456052819
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73682995-G-A
MyVariant Identifiers: chr7:g.73097325G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682995G>A , CM000669.2:g.73682995G>A GRCh38
NC_000007.13:g.73097325G>A , CM000669.1:g.73097325G>A GRCh37
NC_000007.12:g.72735261G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.429C>T MANE Select ENSP00000378605.1:p.Pro143=
ENST00000395176.2:c.429C>T ENSP00000378605.1:p.Pro143=
NM_032317.2:c.429C>T NP_115693.2:p.Pro143=
NM_032317.3:c.429C>T MANE Select NP_115693.2:p.Pro143=
Search 100 bp 5'
Search 100 bp 3'