Canonical Allele Identifier: CA926139794

Gene: PDSS1

Linked Data

• dbSNP Id: rs1834919622
• gnomAD v3: 10-26697901-G-C
• gnomAD v4: 10-26697901-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697901G>C , CM000672.2:g.26697901G>C	GRCh38
NC_000010.10:g.26986830G>C , CM000672.1:g.26986830G>C	GRCh37
NC_000010.9:g.27026836G>C	NCBI36
NG_008972.1:g.5236G>C
NG_008972.2:g.5236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+61G>C MANE Select	ENSP00000365388.5:n.129+61G>C
ENST00000376215.9:c.129+61G>C	ENSP00000365388.5:n.129+61G>C
NM_014317.3:c.129+61G>C	NP_055132.2:n.129+61G>C
XR_428636.2:n.417+61G>C
XR_930486.1:n.417+61G>C
NM_001321978.1:c.129+61G>C	NP_001308907.1:n.129+61G>C
NM_001321979.1:c.-465+61G>C	NP_001308908.1:n.-465+61G>C
NM_014317.4:c.129+61G>C	NP_055132.2:n.129+61G>C
XM_024447922.1:c.129+61G>C	XP_024303690.1:n.129+61G>C
XR_428636.4:n.417+61G>C
NM_014317.5:c.129+61G>C MANE Select	NP_055132.2:n.129+61G>C
NM_001321978.2:c.129+61G>C	NP_001308907.1:n.129+61G>C
NM_001321979.2:c.-465+61G>C	NP_001308908.1:n.-465+61G>C