Canonical Allele Identifier: CA5446848

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 299692
• ClinVar RCV Id: RCV001850583
• dbSNP Id: rs763915931
• ExAC: 10:26986723 G / T
• gnomAD v2: 10-26986723-G-T
• gnomAD v3: 10-26697794-G-T
• gnomAD v4: 10-26697794-G-T
• COSMIC: COSM6413814
• MyVariant Identifiers: chr10:g.26986723G>T (hg19) ; chr10:g.26697794G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697794G>T , CM000672.2:g.26697794G>T	GRCh38
NC_000010.10:g.26986723G>T , CM000672.1:g.26986723G>T	GRCh37
NC_000010.9:g.27026729G>T	NCBI36
NG_008972.1:g.5129G>T
NG_008972.2:g.5129G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376215.10:c.83G>T MANE Select	ENSP00000365388.5:p.Arg28Leu
ENST00000376215.9:c.83G>T	ENSP00000365388.5:p.Arg28Leu
NM_014317.3:c.83G>T	NP_055132.2:p.Arg28Leu
XR_428636.2:n.371G>T
XR_930486.1:n.371G>T
NM_001321978.1:c.83G>T	NP_001308907.1:p.Arg28Leu
NM_001321979.1:c.-511G>T	NP_001308908.1:n.-511G>T
NM_014317.4:c.83G>T	NP_055132.2:p.Arg28Leu
XM_024447922.1:c.83G>T	XP_024303690.1:p.Arg28Leu
XR_428636.4:n.371G>T
NM_014317.5:c.83G>T MANE Select	NP_055132.2:p.Arg28Leu
NM_001321978.2:c.83G>T	NP_001308907.1:p.Arg28Leu
NM_001321979.2:c.-511G>T	NP_001308908.1:n.-511G>T