Canonical Allele Identifier: CA367828656

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs1554611877
• gnomAD v2: 7-73097741-G-T
• gnomAD v4: 7-73683411-G-T
• MyVariant Identifiers: chr7:g.73097741G>T (hg19) ; chr7:g.73683411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683411G>T , CM000669.2:g.73683411G>T	GRCh38
NC_000007.13:g.73097741G>T , CM000669.1:g.73097741G>T	GRCh37
NC_000007.12:g.72735677G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.13C>A (DNAJC30) MANE Select	ENSP00000378605.1:p.Arg5Ser
ENST00000395176.2:c.13C>A (DNAJC30)	ENSP00000378605.1:p.Arg5Ser
ENST00000464615.1:n.359+28G>T (BUD23)
NM_032317.2:c.13C>A (DNAJC30)	NP_115693.2:p.Arg5Ser
NM_032317.3:c.13C>A (DNAJC30) MANE Select	NP_115693.2:p.Arg5Ser