Canonical Allele Identifier: CA292764

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 138681
• ClinVar RCV Id: RCV000127435 ; RCV000270010 ; RCV000950748 ; RCV003975127
• dbSNP Id: rs77826284
• ExAC: 10:26998637 T / G
• gnomAD v2: 10-26998637-T-G
• gnomAD v3: 10-26709708-T-G
• gnomAD v4: 10-26709708-T-G
• MyVariant Identifiers: chr10:g.26998637T>G (hg19) ; chr10:g.26709708T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709708T>G , CM000672.2:g.26709708T>G	GRCh38
NC_000010.10:g.26998637T>G , CM000672.1:g.26998637T>G	GRCh37
NC_000010.9:g.27038643T>G	NCBI36
NG_008972.1:g.17043T>G
NG_008972.2:g.17043T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.407T>G MANE Select	ENSP00000365388.5:p.Phe136Cys
ENST00000376215.9:c.407T>G	ENSP00000365388.5:p.Phe136Cys
ENST00000473224.1:n.158T>G
NM_014317.3:c.407T>G	NP_055132.2:p.Phe136Cys
XM_005252439.2:c.-187T>G	XP_005252496.1:n.-187T>G
XM_011519437.1:c.38T>G	XP_011517739.1:p.Phe13Cys
XR_428636.2:n.695T>G
XR_930486.1:n.695T>G
NM_001321978.1:c.407T>G	NP_001308907.1:p.Phe136Cys
NM_001321979.1:c.-187T>G	NP_001308908.1:n.-187T>G
NM_014317.4:c.407T>G	NP_055132.2:p.Phe136Cys
XM_011519437.3:c.38T>G	XP_011517739.1:p.Phe13Cys
XM_017016011.2:c.86T>G	XP_016871500.1:p.Phe29Cys
XM_024447922.1:c.407T>G	XP_024303690.1:p.Phe136Cys
XM_024447923.1:c.-187T>G	XP_024303691.1:n.-187T>G
XR_428636.4:n.695T>G
NM_014317.5:c.407T>G MANE Select	NP_055132.2:p.Phe136Cys
NM_001321978.2:c.407T>G	NP_001308907.1:p.Phe136Cys
NM_001321979.2:c.-187T>G	NP_001308908.1:n.-187T>G