Canonical Allele Identifier: CA259886
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 30676
ClinVar RCV Id: RCV000023653 RCV001852027
dbSNP Id: rs281865107
gnomAD v2: 10-103825454-C-T
gnomAD v3: 10-102065697-C-T
gnomAD v4: 10-102065697-C-T
MyVariant Identifiers: chr10:g.103825454C>T (hg19) chr10:g.102065697C>T (hg38)
PubMed: PMID:19843503
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102065697C>T , CM000672.2:g.102065697C>T GRCh38
NC_000010.10:g.103825454C>T , CM000672.1:g.103825454C>T GRCh37
NC_000010.9:g.103815444C>T NCBI36
NG_012029.1:g.5308C>T , LRG_564:g.5308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299238.7:c.223C>T MANE Select ENSP00000299238.5:p.Gln75Ter
ENST00000299238.6:c.223C>T ENSP00000299238.5:p.Gln75Ter
NM_024747.5:c.223C>T , LRG_564t1:c.223C>T NP_079023.2:p.Gln75Ter
NM_024747.6:c.223C>T MANE Select NP_079023.2:p.Gln75Ter
Search 100 bp 5'
Search 100 bp 3'