Canonical Allele Identifier: CA5659773
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 282566
ClinVar RCV Id: RCV000369294 RCV000374767 RCV001820815 RCV003939961
dbSNP Id: rs371307947
ExAC: 10:103825568 C / T
gnomAD v2: 10-103825568-C-T
gnomAD v3: 10-102065811-C-T
gnomAD v4: 10-102065811-C-T
MyVariant Identifiers: chr10:g.103825568C>T (hg19) chr10:g.102065811C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102065811C>T , CM000672.2:g.102065811C>T GRCh38
NC_000010.10:g.103825568C>T , CM000672.1:g.103825568C>T GRCh37
NC_000010.9:g.103815558C>T NCBI36
NG_012029.1:g.5422C>T , LRG_564:g.5422C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299238.7:c.337C>T MANE Select ENSP00000299238.5:p.Arg113Trp
ENST00000299238.6:c.337C>T ENSP00000299238.5:p.Arg113Trp
NM_024747.5:c.337C>T , LRG_564t1:c.337C>T NP_079023.2:p.Arg113Trp
NM_024747.6:c.337C>T MANE Select NP_079023.2:p.Arg113Trp
Search 100 bp 5'
Search 100 bp 3'