Canonical Allele Identifier: CA592780184

Gene: PDSS1

Linked Data

• ClinVar Variation Id: 2124070
• ClinVar RCV Id: RCV003056978
• dbSNP Id: rs1174934315
• gnomAD v2: 10-27012715-T-C
• gnomAD v4: 10-26723786-T-C
• MyVariant Identifiers: chr10:g.27012715T>C (hg19) ; chr10:g.26723786T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723786T>C , CM000672.2:g.26723786T>C	GRCh38
NC_000010.10:g.27012715T>C , CM000672.1:g.27012715T>C	GRCh37
NC_000010.9:g.27052721T>C	NCBI36
NG_008972.1:g.31121T>C
NG_008972.2:g.31121T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376215.10:c.610-20T>C MANE Select	ENSP00000365388.5:n.610-20T>C
ENST00000376215.9:c.610-20T>C	ENSP00000365388.5:n.610-20T>C
ENST00000473224.1:n.444-20T>C
ENST00000491711.5:c.18-20T>C
NM_014317.3:c.610-20T>C	NP_055132.2:n.610-20T>C
XM_005252439.2:c.100-20T>C	XP_005252496.1:n.100-20T>C
XM_011519437.1:c.241-20T>C	XP_011517739.1:n.241-20T>C
XR_428636.2:n.898-20T>C
XR_930486.1:n.898-20T>C
NM_001321978.1:c.610-20T>C	NP_001308907.1:n.610-20T>C
NM_001321979.1:c.100-20T>C	NP_001308908.1:n.100-20T>C
NM_014317.4:c.610-20T>C	NP_055132.2:n.610-20T>C
XM_011519437.3:c.241-20T>C	XP_011517739.1:n.241-20T>C
XM_017016011.2:c.289-20T>C	XP_016871500.1:n.289-20T>C
XM_024447922.1:c.610-20T>C	XP_024303690.1:n.610-20T>C
XM_024447923.1:c.100-20T>C	XP_024303691.1:n.100-20T>C
XR_428636.4:n.898-20T>C
NM_014317.5:c.610-20T>C MANE Select	NP_055132.2:n.610-20T>C
NM_001321978.2:c.610-20T>C	NP_001308907.1:n.610-20T>C
NM_001321979.2:c.100-20T>C	NP_001308908.1:n.100-20T>C