Canonical Allele Identifier: CA5660034

Gene: HPS6

Linked Data

• ClinVar Variation Id: 282222
• ClinVar RCV Id: RCV000283876 ; RCV000306350 ; RCV000906398 ; RCV003955439
• dbSNP Id: rs77529785
• ExAC: 10:103827010 G / A
• gnomAD v2: 10-103827010-G-A
• gnomAD v3: 10-102067253-G-A
• gnomAD v4: 10-102067253-G-A
• MyVariant Identifiers: chr10:g.103827010G>A (hg19) ; chr10:g.102067253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102067253G>A , CM000672.2:g.102067253G>A	GRCh38
NC_000010.10:g.103827010G>A , CM000672.1:g.103827010G>A	GRCh37
NC_000010.9:g.103817000G>A	NCBI36
NG_012029.1:g.6864G>A , LRG_564:g.6864G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299238.7:c.1779G>A MANE Select	ENSP00000299238.5:p.Pro593=
ENST00000299238.6:c.1779G>A	ENSP00000299238.5:p.Pro593=
NM_024747.5:c.1779G>A , LRG_564t1:c.1779G>A	NP_079023.2:p.Pro593=
NM_024747.6:c.1779G>A MANE Select	NP_079023.2:p.Pro593=