Canonical Allele Identifier: CA14367694
Gene: VPS53 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.715725T>C
GRCh37 chr17:g.618965T>C
gnomAD v2:
17:618965 T / C
gnomAD v3:
17:715725 T / C
gnomAD v4:
chr17-715725-T-C
Joint Max Group AF 0.65271819 (AFR)
Genomes Max Group AF 0.65271819 (AFR)
dbSNP:
684232
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.715725T>C , CM000679.2:g.715725T>C GRCh38
NC_000017.10:g.618965T>C , CM000679.1:g.618965T>C GRCh37
NC_000017.9:g.565715T>C NCBI36
NG_034190.1:g.4132A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000680704.1:c.-282-5112A>G ENSP00000506453.1:n.-282-5112A>G
ENST00000576019.5:c.-282-5112A>G ENSP00000461429.1:n.-282-5112A>G
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