Canonical Allele Identifier: CA209205431

Gene: VPS26A

Linked Data

• dbSNP Id: rs992116206
• gnomAD v3: 10-69171744-G-T
• gnomAD v4: 10-69171744-G-T
• MyVariant Identifiers: chr10:g.70931500G>T (hg19) ; chr10:g.69171744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69171744G>T , CM000672.2:g.69171744G>T	GRCh38
NC_000010.10:g.70931500G>T , CM000672.1:g.70931500G>T	GRCh37
NC_000010.9:g.70601506G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000263559.11:c.*475G>T MANE Select	ENSP00000263559.6:n.*475G>T
ENST00000263559.10:c.*475G>T	ENSP00000263559.6:n.*475G>T
ENST00000373382.5:c.*475G>T	ENSP00000362480.1:n.*475G>T
ENST00000395098.5:c.*560G>T	ENSP00000378532.1:n.*560G>T
NM_001035260.1:c.*560G>T	NP_001030337.1:n.*560G>T
NM_004896.3:c.*475G>T	NP_004887.2:n.*475G>T
XM_011540378.1:c.*475G>T	XP_011538680.1:n.*475G>T
NM_001035260.2:c.*560G>T	NP_001030337.1:n.*560G>T
NM_001318944.1:c.*475G>T	NP_001305873.1:n.*475G>T
NM_001318945.1:c.*475G>T	NP_001305874.1:n.*475G>T
NM_001318946.1:c.*475G>T	NP_001305875.1:n.*475G>T
NM_004896.4:c.*475G>T	NP_004887.2:n.*475G>T
NM_004896.5:c.*475G>T MANE Select	NP_004887.2:n.*475G>T
NM_001318944.2:c.*475G>T	NP_001305873.1:n.*475G>T
NM_001318945.2:c.*475G>T	NP_001305874.1:n.*475G>T
NM_001318946.2:c.*475G>T	NP_001305875.1:n.*475G>T
NM_001035260.3:c.*560G>T	NP_001030337.1:n.*560G>T