Canonical Allele Identifier: CA204412570

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26742823T>G , CM000672.2:g.26742823T>G	GRCh38
NC_000010.10:g.27031752T>G , CM000672.1:g.27031752T>G	GRCh37
NC_000010.9:g.27071758T>G	NCBI36
NG_008972.1:g.50158T>G
NG_008972.2:g.50158T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014317.5:c.1107+246T>G MANE Select	NP_055132.2:n.1107+246T>G
ENST00000376215.10:c.1107+246T>G MANE Select	ENSP00000365388.5:n.1107+246T>G
NM_001321978.1:c.916+246T>G	NP_001308907.1:n.916+246T>G
NM_001321978.2:c.916+246T>G	NP_001308907.1:n.916+246T>G
NM_001321979.1:c.597+246T>G	NP_001308908.1:n.597+246T>G
NM_001321979.2:c.597+246T>G	NP_001308908.1:n.597+246T>G
NM_014317.3:c.1107+246T>G	NP_055132.2:n.1107+246T>G
NM_014317.4:c.1107+246T>G	NP_055132.2:n.1107+246T>G
ENST00000376215.9:c.1107+246T>G	ENSP00000365388.5:n.1107+246T>G
ENST00000470978.1:n.349+246T>G
ENST00000491711.5:c.688+246T>G
XM_005252439.2:c.597+246T>G	XP_005252496.1:n.597+246T>G
XM_011519437.1:c.738+246T>G	XP_011517739.1:n.738+246T>G
XM_011519437.3:c.738+246T>G	XP_011517739.1:n.738+246T>G
XM_017016011.2:c.786+246T>G	XP_016871500.1:n.786+246T>G
XM_024447923.1:c.597+246T>G	XP_024303691.1:n.597+246T>G
XR_428636.2:n.1399+246T>G
XR_428636.4:n.1399+246T>G