Canonical Allele Identifier: CA663322013

Gene: PDSS1

Linked Data

• dbSNP Id: rs1339929071
• gnomAD v3: 10-26723763-T-C
• gnomAD v4: 10-26723763-T-C
• MyVariant Identifiers: chr10:g.27012692T>C (hg19) ; chr10:g.26723763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723763T>C , CM000672.2:g.26723763T>C	GRCh38
NC_000010.10:g.27012692T>C , CM000672.1:g.27012692T>C	GRCh37
NC_000010.9:g.27052698T>C	NCBI36
NG_008972.1:g.31098T>C
NG_008972.2:g.31098T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376215.10:c.610-43T>C MANE Select	ENSP00000365388.5:n.610-43T>C
ENST00000376215.9:c.610-43T>C	ENSP00000365388.5:n.610-43T>C
ENST00000473224.1:n.444-43T>C
ENST00000491711.5:c.18-43T>C
NM_014317.3:c.610-43T>C	NP_055132.2:n.610-43T>C
XM_005252439.2:c.100-43T>C	XP_005252496.1:n.100-43T>C
XM_011519437.1:c.241-43T>C	XP_011517739.1:n.241-43T>C
XR_428636.2:n.898-43T>C
XR_930486.1:n.898-43T>C
NM_001321978.1:c.610-43T>C	NP_001308907.1:n.610-43T>C
NM_001321979.1:c.100-43T>C	NP_001308908.1:n.100-43T>C
NM_014317.4:c.610-43T>C	NP_055132.2:n.610-43T>C
XM_011519437.3:c.241-43T>C	XP_011517739.1:n.241-43T>C
XM_017016011.2:c.289-43T>C	XP_016871500.1:n.289-43T>C
XM_024447922.1:c.610-43T>C	XP_024303690.1:n.610-43T>C
XM_024447923.1:c.100-43T>C	XP_024303691.1:n.100-43T>C
XR_428636.4:n.898-43T>C
NM_014317.5:c.610-43T>C MANE Select	NP_055132.2:n.610-43T>C
NM_001321978.2:c.610-43T>C	NP_001308907.1:n.610-43T>C
NM_001321979.2:c.100-43T>C	NP_001308908.1:n.100-43T>C