Canonical Allele Identifier: CA3945984

Gene: PDSS2

Linked Data

• dbSNP Id: rs747602378
• ExAC: 6:107531763 A / T
• gnomAD v4: 6-107210559-A-T
• MyVariant Identifiers: chr6:g.107531763A>T (hg19) ; chr6:g.107210559A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210559A>T , CM000668.2:g.107210559A>T	GRCh38
NC_000006.11:g.107531763A>T , CM000668.1:g.107531763A>T	GRCh37
NC_000006.10:g.107638456A>T	NCBI36
NG_013033.1:g.254017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.888T>A MANE Select	ENSP00000358033.4:p.Asp296Glu
ENST00000369037.8:c.888T>A	ENSP00000358033.4:p.Asp296Glu
ENST00000449027.1:c.63T>A	ENSP00000392613.1:p.Asp21Glu
NM_020381.3:c.888T>A	NP_065114.3:p.Asp296Glu
XM_011535956.1:c.888T>A	XP_011534258.1:p.Asp296Glu
XM_011535957.1:c.876+1550T>A	XP_011534259.1:n.876+1550T>A
XM_011535958.1:c.753T>A	XP_011534260.1:p.Asp251Glu
XM_011535959.1:c.876+1550T>A	XP_011534261.1:n.876+1550T>A
XM_011535960.1:c.480T>A	XP_011534262.1:p.Asp160Glu
XM_011535961.1:c.703-16705T>A	XP_011534263.1:n.703-16705T>A
XM_011535962.1:c.480T>A	XP_011534264.1:p.Asp160Glu
XM_011535956.3:c.888T>A	XP_011534258.1:p.Asp296Glu
XM_011535957.3:c.876+1550T>A	XP_011534259.1:n.876+1550T>A
XM_011535958.3:c.753T>A	XP_011534260.1:p.Asp251Glu
XM_011535959.3:c.876+1550T>A	XP_011534261.1:n.876+1550T>A
XM_011535960.3:c.480T>A	XP_011534262.1:p.Asp160Glu
XM_011535961.3:c.703-16705T>A	XP_011534263.1:n.703-16705T>A
XM_011535962.2:c.480T>A	XP_011534264.1:p.Asp160Glu
XM_017011082.2:c.888T>A	XP_016866571.1:p.Asp296Glu
NM_020381.4:c.888T>A MANE Select	NP_065114.3:p.Asp296Glu