Canonical Allele Identifier: CA5659805

Gene: HPS6

Linked Data

• ClinVar Variation Id: 435461
• ClinVar RCV Id: RCV000501662 ; RCV001103503 ; RCV001857107 ; RCV004023376
• dbSNP Id: rs144257610
• ExAC: 10:103825772 A / G
• gnomAD v2: 10-103825772-A-G
• gnomAD v3: 10-102066015-A-G
• gnomAD v4: 10-102066015-A-G
• MyVariant Identifiers: chr10:g.103825772A>G (hg19) ; chr10:g.102066015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102066015A>G , CM000672.2:g.102066015A>G	GRCh38
NC_000010.10:g.103825772A>G , CM000672.1:g.103825772A>G	GRCh37
NC_000010.9:g.103815762A>G	NCBI36
NG_012029.1:g.5626A>G , LRG_564:g.5626A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299238.7:c.541A>G MANE Select	ENSP00000299238.5:p.Thr181Ala
ENST00000299238.6:c.541A>G	ENSP00000299238.5:p.Thr181Ala
NM_024747.5:c.541A>G , LRG_564t1:c.541A>G	NP_079023.2:p.Thr181Ala
NM_024747.6:c.541A>G MANE Select	NP_079023.2:p.Thr181Ala