Canonical Allele Identifier: CA367827326

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs1554611738
• gnomAD v2: 7-73097513-T-G
• gnomAD v4: 7-73683183-T-G
• MyVariant Identifiers: chr7:g.73097513T>G (hg19) ; chr7:g.73683183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683183T>G , CM000669.2:g.73683183T>G	GRCh38
NC_000007.13:g.73097513T>G , CM000669.1:g.73097513T>G	GRCh37
NC_000007.12:g.72735449T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.241A>C (DNAJC30) MANE Select	ENSP00000378605.1:p.Asn81His
ENST00000395176.2:c.241A>C (DNAJC30)	ENSP00000378605.1:p.Asn81His
ENST00000464615.1:n.159T>G (BUD23)
NM_032317.2:c.241A>C (DNAJC30)	NP_115693.2:p.Asn81His
NM_032317.3:c.241A>C (DNAJC30) MANE Select	NP_115693.2:p.Asn81His