Canonical Allele Identifier: CA2542934999

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709956G>T , CM000672.2:g.26709956G>T	GRCh38
NC_000010.10:g.26998885G>T , CM000672.1:g.26998885G>T	GRCh37
NC_000010.9:g.27038891G>T	NCBI36
NG_008972.1:g.17291G>T
NG_008972.2:g.17291G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+188G>T MANE Select	ENSP00000365388.5:n.467+188G>T
ENST00000376215.9:c.467+188G>T	ENSP00000365388.5:n.467+188G>T
ENST00000473224.1:n.218+188G>T
NM_014317.3:c.467+188G>T	NP_055132.2:n.467+188G>T
XM_005252439.2:c.-127+188G>T	XP_005252496.1:n.-127+188G>T
XM_011519437.1:c.98+188G>T	XP_011517739.1:n.98+188G>T
XR_428636.2:n.755+188G>T
XR_930486.1:n.755+188G>T
NM_001321978.1:c.467+188G>T	NP_001308907.1:n.467+188G>T
NM_001321979.1:c.-127+188G>T	NP_001308908.1:n.-127+188G>T
NM_014317.4:c.467+188G>T	NP_055132.2:n.467+188G>T
XM_011519437.3:c.98+188G>T	XP_011517739.1:n.98+188G>T
XM_017016011.2:c.146+188G>T	XP_016871500.1:n.146+188G>T
XM_024447922.1:c.467+188G>T	XP_024303690.1:n.467+188G>T
XM_024447923.1:c.-127+188G>T	XP_024303691.1:n.-127+188G>T
XR_428636.4:n.755+188G>T
NM_014317.5:c.467+188G>T MANE Select	NP_055132.2:n.467+188G>T
NM_001321978.2:c.467+188G>T	NP_001308907.1:n.467+188G>T
NM_001321979.2:c.-127+188G>T	NP_001308908.1:n.-127+188G>T