Canonical Allele Identifier: CA160072478
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs939355018
gnomAD v4: 7-73682994-T-C
MyVariant Identifiers: chr7:g.73097324T>C (hg19) chr7:g.73682994T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682994T>C , CM000669.2:g.73682994T>C GRCh38
NC_000007.13:g.73097324T>C , CM000669.1:g.73097324T>C GRCh37
NC_000007.12:g.72735260T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.430A>G MANE Select ENSP00000378605.1:p.Thr144Ala
ENST00000395176.2:c.430A>G ENSP00000378605.1:p.Thr144Ala
NM_032317.2:c.430A>G NP_115693.2:p.Thr144Ala
NM_032317.3:c.430A>G MANE Select NP_115693.2:p.Thr144Ala
Search 100 bp 5'
Search 100 bp 3'