Canonical Allele Identifier: CA2838717626

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723741A>T , CM000672.2:g.26723741A>T	GRCh38
NC_000010.10:g.27012670A>T , CM000672.1:g.27012670A>T	GRCh37
NC_000010.9:g.27052676A>T	NCBI36
NG_008972.1:g.31076A>T
NG_008972.2:g.31076A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.610-65A>T MANE Select	ENSP00000365388.5:n.610-65A>T
ENST00000376215.9:c.610-65A>T	ENSP00000365388.5:n.610-65A>T
ENST00000473224.1:n.444-65A>T
ENST00000491711.5:c.18-65A>T
NM_014317.3:c.610-65A>T	NP_055132.2:n.610-65A>T
XM_005252439.2:c.100-65A>T	XP_005252496.1:n.100-65A>T
XM_011519437.1:c.241-65A>T	XP_011517739.1:n.241-65A>T
XR_428636.2:n.898-65A>T
XR_930486.1:n.898-65A>T
NM_001321978.1:c.610-65A>T	NP_001308907.1:n.610-65A>T
NM_001321979.1:c.100-65A>T	NP_001308908.1:n.100-65A>T
NM_014317.4:c.610-65A>T	NP_055132.2:n.610-65A>T
XM_011519437.3:c.241-65A>T	XP_011517739.1:n.241-65A>T
XM_017016011.2:c.289-65A>T	XP_016871500.1:n.289-65A>T
XM_024447922.1:c.610-65A>T	XP_024303690.1:n.610-65A>T
XM_024447923.1:c.100-65A>T	XP_024303691.1:n.100-65A>T
XR_428636.4:n.898-65A>T
NM_014317.5:c.610-65A>T MANE Select	NP_055132.2:n.610-65A>T
NM_001321978.2:c.610-65A>T	NP_001308907.1:n.610-65A>T
NM_001321979.2:c.100-65A>T	NP_001308908.1:n.100-65A>T