Canonical Allele Identifier: CA176349
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 163683
ClinVar RCV Id: RCV000150832 RCV000311876 RCV001520021
dbSNP Id: rs3737243
ExAC: 10:103825747 G / A
gnomAD v2: 10-103825747-G-A
gnomAD v3: 10-102065990-G-A
gnomAD v4: 10-102065990-G-A
MyVariant Identifiers: chr10:g.103825747G>A (hg19) chr10:g.102065990G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102065990G>A , CM000672.2:g.102065990G>A GRCh38
NC_000010.10:g.103825747G>A , CM000672.1:g.103825747G>A GRCh37
NC_000010.9:g.103815737G>A NCBI36
NG_012029.1:g.5601G>A , LRG_564:g.5601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299238.7:c.516G>A MANE Select ENSP00000299238.5:p.Gly172=
ENST00000299238.6:c.516G>A ENSP00000299238.5:p.Gly172=
NM_024747.5:c.516G>A , LRG_564t1:c.516G>A NP_079023.2:p.Gly172=
NM_024747.6:c.516G>A MANE Select NP_079023.2:p.Gly172=
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