Canonical Allele Identifier: CA376488948

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 1687674
• ClinVar RCV Id: RCV002251648
• dbSNP Id: rs17855857
• gnomAD v4: 10-26697800-G-C
• MyVariant Identifiers: chr10:g.26986729G>C (hg19) ; chr10:g.26697800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697800G>C , CM000672.2:g.26697800G>C	GRCh38
NC_000010.10:g.26986729G>C , CM000672.1:g.26986729G>C	GRCh37
NC_000010.9:g.27026735G>C	NCBI36
NG_008972.1:g.5135G>C
NG_008972.2:g.5135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.89G>C MANE Select	ENSP00000365388.5:p.Gly30Ala
ENST00000376215.9:c.89G>C	ENSP00000365388.5:p.Gly30Ala
NM_014317.3:c.89G>C	NP_055132.2:p.Gly30Ala
XR_428636.2:n.377G>C
XR_930486.1:n.377G>C
NM_001321978.1:c.89G>C	NP_001308907.1:p.Gly30Ala
NM_001321979.1:c.-505G>C	NP_001308908.1:n.-505G>C
NM_014317.4:c.89G>C	NP_055132.2:p.Gly30Ala
XM_024447922.1:c.89G>C	XP_024303690.1:p.Gly30Ala
XR_428636.4:n.377G>C
NM_014317.5:c.89G>C MANE Select	NP_055132.2:p.Gly30Ala
NM_001321978.2:c.89G>C	NP_001308907.1:p.Gly30Ala
NM_001321979.2:c.-505G>C	NP_001308908.1:n.-505G>C