Canonical Allele Identifier: CA5659778

Gene: HPS6

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)

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