Canonical Allele Identifier: CA5660005

Gene: HPS6

Linked Data

• ClinVar Variation Id: 298559
• ClinVar RCV Id: RCV000323646 ; RCV002520530 ; RCV002520531
• dbSNP Id: rs757589760
• ExAC: 10:103826837 A / G
• gnomAD v2: 10-103826837-A-G
• gnomAD v3: 10-102067080-A-G
• gnomAD v4: 10-102067080-A-G
• MyVariant Identifiers: chr10:g.103826837A>G (hg19) ; chr10:g.102067080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102067080A>G , CM000672.2:g.102067080A>G	GRCh38
NC_000010.10:g.103826837A>G , CM000672.1:g.103826837A>G	GRCh37
NC_000010.9:g.103816827A>G	NCBI36
NG_012029.1:g.6691A>G , LRG_564:g.6691A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299238.7:c.1606A>G MANE Select	ENSP00000299238.5:p.Arg536Gly
ENST00000299238.6:c.1606A>G	ENSP00000299238.5:p.Arg536Gly
NM_024747.5:c.1606A>G , LRG_564t1:c.1606A>G	NP_079023.2:p.Arg536Gly
NM_024747.6:c.1606A>G MANE Select	NP_079023.2:p.Arg536Gly