Canonical Allele Identifier: CA116105

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 3237
• ClinVar RCV Id: RCV000003393
• dbSNP Id: rs119463988
• MyVariant Identifiers: chr10:g.27024406T>G (hg19) ; chr10:g.26735477T>G (hg38)
• PubMed: PMID:17332895 ; PMID:28125198

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26735477T>G , CM000672.2:g.26735477T>G	GRCh38
NC_000010.10:g.27024406T>G , CM000672.1:g.27024406T>G	GRCh37
NC_000010.9:g.27064412T>G	NCBI36
NG_008972.1:g.42812T>G
NG_008972.2:g.42812T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376215.10:c.924T>G MANE Select	ENSP00000365388.5:p.Asp308Glu
ENST00000376215.9:c.924T>G	ENSP00000365388.5:p.Asp308Glu
ENST00000470978.1:n.166T>G
ENST00000491711.5:c.332T>G
NM_014317.3:c.924T>G	NP_055132.2:p.Asp308Glu
XM_005252439.2:c.414T>G	XP_005252496.1:p.Asp138Glu
XM_011519437.1:c.555T>G	XP_011517739.1:p.Asp185Glu
XR_428636.2:n.1216T>G
XR_930486.1:n.1212T>G
NM_001321978.1:c.836-7020T>G	NP_001308907.1:n.836-7020T>G
NM_001321979.1:c.414T>G	NP_001308908.1:p.Asp138Glu
NM_014317.4:c.924T>G	NP_055132.2:p.Asp308Glu
XM_011519437.3:c.555T>G	XP_011517739.1:p.Asp185Glu
XM_017016011.2:c.603T>G	XP_016871500.1:p.Asp201Glu
XM_024447922.1:c.924T>G	XP_024303690.1:p.Asp308Glu
XM_024447923.1:c.414T>G	XP_024303691.1:p.Asp138Glu
XR_428636.4:n.1216T>G
NM_014317.5:c.924T>G MANE Select	NP_055132.2:p.Asp308Glu
NM_001321978.2:c.836-7020T>G	NP_001308907.1:n.836-7020T>G
NM_001321979.2:c.414T>G	NP_001308908.1:p.Asp138Glu