Canonical Allele Identifier: CA365321946

Gene: PDSS2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107154674G>T , CM000668.2:g.107154674G>T	GRCh38
NC_000006.11:g.107475878G>T , CM000668.1:g.107475878G>T	GRCh37
NC_000006.10:g.107582571G>T	NCBI36
NG_013033.1:g.309902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.1145C>A MANE Select	ENSP00000358033.4:p.Ser382Ter
ENST00000369037.8:c.1145C>A	ENSP00000358033.4:p.Ser382Ter
NM_020381.3:c.1145C>A	NP_065114.3:p.Ser382Ter
XM_011535956.1:c.1343C>A	XP_011534258.1:p.Ser448Ter
XM_011535957.1:c.1211C>A	XP_011534259.1:p.Ser404Ter
XM_011535958.1:c.1208C>A	XP_011534260.1:p.Ser403Ter
XM_011535959.1:c.1013C>A	XP_011534261.1:p.Ser338Ter
XM_011535960.1:c.935C>A	XP_011534262.1:p.Ser312Ter
XM_011535961.1:c.839C>A	XP_011534263.1:p.Ser280Ter
XM_011535962.1:c.737C>A	XP_011534264.1:p.Ser246Ter
XM_011535956.3:c.1343C>A	XP_011534258.1:p.Ser448Ter
XM_011535957.3:c.1211C>A	XP_011534259.1:p.Ser404Ter
XM_011535958.3:c.1208C>A	XP_011534260.1:p.Ser403Ter
XM_011535959.3:c.1013C>A	XP_011534261.1:p.Ser338Ter
XM_011535960.3:c.935C>A	XP_011534262.1:p.Ser312Ter
XM_011535961.3:c.839C>A	XP_011534263.1:p.Ser280Ter
XM_011535962.2:c.737C>A	XP_011534264.1:p.Ser246Ter
NM_020381.4:c.1145C>A MANE Select	NP_065114.3:p.Ser382Ter