Canonical Allele Identifier: CA376348221

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.27012799C>A (hg19) ; chr10:g.26723870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723870C>A , CM000672.2:g.26723870C>A	GRCh38
NC_000010.10:g.27012799C>A , CM000672.1:g.27012799C>A	GRCh37
NC_000010.9:g.27052805C>A	NCBI36
NG_008972.1:g.31205C>A
NG_008972.2:g.31205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.674C>A MANE Select	ENSP00000365388.5:p.Thr225Lys
ENST00000376215.9:c.674C>A	ENSP00000365388.5:p.Thr225Lys
ENST00000473224.1:n.508C>A
ENST00000491711.5:c.82C>A
NM_014317.3:c.674C>A	NP_055132.2:p.Thr225Lys
XM_005252439.2:c.164C>A	XP_005252496.1:p.Thr55Lys
XM_011519437.1:c.305C>A	XP_011517739.1:p.Thr102Lys
XR_428636.2:n.962C>A
XR_930486.1:n.962C>A
NM_001321978.1:c.674C>A	NP_001308907.1:p.Thr225Lys
NM_001321979.1:c.164C>A	NP_001308908.1:p.Thr55Lys
NM_014317.4:c.674C>A	NP_055132.2:p.Thr225Lys
XM_011519437.3:c.305C>A	XP_011517739.1:p.Thr102Lys
XM_017016011.2:c.353C>A	XP_016871500.1:p.Thr118Lys
XM_024447922.1:c.674C>A	XP_024303690.1:p.Thr225Lys
XM_024447923.1:c.164C>A	XP_024303691.1:p.Thr55Lys
XR_428636.4:n.962C>A
NM_014317.5:c.674C>A MANE Select	NP_055132.2:p.Thr225Lys
NM_001321978.2:c.674C>A	NP_001308907.1:p.Thr225Lys
NM_001321979.2:c.164C>A	NP_001308908.1:p.Thr55Lys