Canonical Allele Identifier: CA10587073
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 261761
ClinVar RCV Id: RCV000253901 RCV000335219 RCV001610733
dbSNP Id: rs3816
gnomAD v2: 10-103827737-T-G
gnomAD v3: 10-102067980-T-G
gnomAD v4: 10-102067980-T-G
MyVariant Identifiers: chr10:g.103827737T>G (hg19) chr10:g.102067980T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102067980T>G , CM000672.2:g.102067980T>G GRCh38
NC_000010.10:g.103827737T>G , CM000672.1:g.103827737T>G GRCh37
NC_000010.9:g.103817727T>G NCBI36
NG_012029.1:g.7591T>G , LRG_564:g.7591T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299238.7:c.*178T>G MANE Select ENSP00000299238.5:n.*178T>G
ENST00000299238.6:c.*178T>G ENSP00000299238.5:n.*178T>G
NM_024747.5:c.*178T>G , LRG_564t1:c.*178T>G NP_079023.2:n.*178T>G
NM_024747.6:c.*178T>G MANE Select NP_079023.2:n.*178T>G
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