Canonical Allele Identifier: CA376352056

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26746335T>A , CM000672.2:g.26746335T>A	GRCh38
NC_000010.10:g.27035264T>A , CM000672.1:g.27035264T>A	GRCh37
NC_000010.9:g.27075270T>A	NCBI36
NG_008972.1:g.53670T>A
NG_030025.1:g.119753A>T
NG_008972.2:g.53670T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.1110T>A MANE Select	ENSP00000365388.5:p.Ser370Arg
ENST00000376215.9:c.1110T>A	ENSP00000365388.5:p.Ser370Arg
ENST00000470978.1:n.352T>A
ENST00000491711.5:c.691T>A
NM_014317.3:c.1110T>A	NP_055132.2:p.Ser370Arg
XM_005252439.2:c.600T>A	XP_005252496.1:p.Ser200Arg
XM_011519437.1:c.741T>A	XP_011517739.1:p.Ser247Arg
XR_428636.2:n.1402T>A
NM_001321978.1:c.919T>A	NP_001308907.1:p.Ter307Arg
NM_001321979.1:c.600T>A	NP_001308908.1:p.Ser200Arg
NM_014317.4:c.1110T>A	NP_055132.2:p.Ser370Arg
XM_011519437.3:c.741T>A	XP_011517739.1:p.Ser247Arg
XM_017016011.2:c.789T>A	XP_016871500.1:p.Ser263Arg
XM_024447923.1:c.600T>A	XP_024303691.1:p.Ser200Arg
XR_428636.4:n.1402T>A
NM_014317.5:c.1110T>A MANE Select	NP_055132.2:p.Ser370Arg
NM_001321978.2:c.919T>A	NP_001308907.1:p.Ter307Arg
NM_001321979.2:c.600T>A	NP_001308908.1:p.Ser200Arg