Canonical Allele Identifier: CA10630793
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 298551
ClinVar RCV Id: RCV000338050
dbSNP Id: rs886046648

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102065612G>A , CM000672.2:g.102065612G>A GRCh38
NC_000010.10:g.103825369G>A , CM000672.1:g.103825369G>A GRCh37
NC_000010.9:g.103815359G>A NCBI36
NG_012029.1:g.5223G>A , LRG_564:g.5223G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299238.7:c.138G>A MANE Select ENSP00000299238.5:p.Leu46=
ENST00000299238.6:c.138G>A ENSP00000299238.5:p.Leu46=
NM_024747.5:c.138G>A , LRG_564t1:c.138G>A NP_079023.2:p.Leu46=
NM_024747.6:c.138G>A MANE Select NP_079023.2:p.Leu46=