Canonical Allele Identifier: CA5659778
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 298554
ClinVar RCV Id: RCV000402564 RCV000418178 RCV001699295
dbSNP Id: rs199816481
ExAC: 10:103825629 C / T
gnomAD v2: 10-103825629-C-T
gnomAD v3: 10-102065872-C-T
gnomAD v4: 10-102065872-C-T
MyVariant Identifiers: chr10:g.103825629C>T (hg19) chr10:g.102065872C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102065872C>T , CM000672.2:g.102065872C>T GRCh38
NC_000010.10:g.103825629C>T , CM000672.1:g.103825629C>T GRCh37
NC_000010.9:g.103815619C>T NCBI36
NG_012029.1:g.5483C>T , LRG_564:g.5483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299238.7:c.398C>T MANE Select ENSP00000299238.5:p.Ala133Val
ENST00000299238.6:c.398C>T ENSP00000299238.5:p.Ala133Val
NM_024747.5:c.398C>T , LRG_564t1:c.398C>T NP_079023.2:p.Ala133Val
NM_024747.6:c.398C>T MANE Select NP_079023.2:p.Ala133Val
Search 100 bp 5'
Search 100 bp 3'