Canonical Allele Identifier: CA376348149

Gene: PDSS1

Linked Data

• dbSNP Id: rs1205192026
• gnomAD v2: 10-27012776-A-G
• gnomAD v4: 10-26723847-A-G
• MyVariant Identifiers: chr10:g.27012776A>G (hg19) ; chr10:g.26723847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723847A>G , CM000672.2:g.26723847A>G	GRCh38
NC_000010.10:g.27012776A>G , CM000672.1:g.27012776A>G	GRCh37
NC_000010.9:g.27052782A>G	NCBI36
NG_008972.1:g.31182A>G
NG_008972.2:g.31182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.651A>G MANE Select	ENSP00000365388.5:p.Ile217Met
ENST00000376215.9:c.651A>G	ENSP00000365388.5:p.Ile217Met
ENST00000473224.1:n.485A>G
ENST00000491711.5:c.59A>G
NM_014317.3:c.651A>G	NP_055132.2:p.Ile217Met
XM_005252439.2:c.141A>G	XP_005252496.1:p.Ile47Met
XM_011519437.1:c.282A>G	XP_011517739.1:p.Ile94Met
XR_428636.2:n.939A>G
XR_930486.1:n.939A>G
NM_001321978.1:c.651A>G	NP_001308907.1:p.Ile217Met
NM_001321979.1:c.141A>G	NP_001308908.1:p.Ile47Met
NM_014317.4:c.651A>G	NP_055132.2:p.Ile217Met
XM_011519437.3:c.282A>G	XP_011517739.1:p.Ile94Met
XM_017016011.2:c.330A>G	XP_016871500.1:p.Ile110Met
XM_024447922.1:c.651A>G	XP_024303690.1:p.Ile217Met
XM_024447923.1:c.141A>G	XP_024303691.1:p.Ile47Met
XR_428636.4:n.939A>G
NM_014317.5:c.651A>G MANE Select	NP_055132.2:p.Ile217Met
NM_001321978.2:c.651A>G	NP_001308907.1:p.Ile217Met
NM_001321979.2:c.141A>G	NP_001308908.1:p.Ile47Met