Canonical Allele Identifier: CA2608597113

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26723750-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723750T>G , CM000672.2:g.26723750T>G	GRCh38
NC_000010.10:g.27012679T>G , CM000672.1:g.27012679T>G	GRCh37
NC_000010.9:g.27052685T>G	NCBI36
NG_008972.1:g.31085T>G
NG_008972.2:g.31085T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.610-56T>G MANE Select	ENSP00000365388.5:n.610-56T>G
ENST00000376215.9:c.610-56T>G	ENSP00000365388.5:n.610-56T>G
ENST00000473224.1:n.444-56T>G
ENST00000491711.5:c.18-56T>G
NM_014317.3:c.610-56T>G	NP_055132.2:n.610-56T>G
XM_005252439.2:c.100-56T>G	XP_005252496.1:n.100-56T>G
XM_011519437.1:c.241-56T>G	XP_011517739.1:n.241-56T>G
XR_428636.2:n.898-56T>G
XR_930486.1:n.898-56T>G
NM_001321978.1:c.610-56T>G	NP_001308907.1:n.610-56T>G
NM_001321979.1:c.100-56T>G	NP_001308908.1:n.100-56T>G
NM_014317.4:c.610-56T>G	NP_055132.2:n.610-56T>G
XM_011519437.3:c.241-56T>G	XP_011517739.1:n.241-56T>G
XM_017016011.2:c.289-56T>G	XP_016871500.1:n.289-56T>G
XM_024447922.1:c.610-56T>G	XP_024303690.1:n.610-56T>G
XM_024447923.1:c.100-56T>G	XP_024303691.1:n.100-56T>G
XR_428636.4:n.898-56T>G
NM_014317.5:c.610-56T>G MANE Select	NP_055132.2:n.610-56T>G
NM_001321978.2:c.610-56T>G	NP_001308907.1:n.610-56T>G
NM_001321979.2:c.100-56T>G	NP_001308908.1:n.100-56T>G