Canonical Allele Identifier: CA365322551

Gene: PDSS2

Linked Data

• dbSNP Id: rs2114624811
• gnomAD v4: 6-107210500-G-A
• MyVariant Identifiers: chr6:g.107531704G>A (hg19) ; chr6:g.107210500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210500G>A , CM000668.2:g.107210500G>A	GRCh38
NC_000006.11:g.107531704G>A , CM000668.1:g.107531704G>A	GRCh37
NC_000006.10:g.107638397G>A	NCBI36
NG_013033.1:g.254076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.947C>T MANE Select	ENSP00000358033.4:p.Ala316Val
ENST00000369037.8:c.947C>T	ENSP00000358033.4:p.Ala316Val
ENST00000449027.1:c.122C>T	ENSP00000392613.1:p.Ala41Val
NM_020381.3:c.947C>T	NP_065114.3:p.Ala316Val
XM_011535956.1:c.947C>T	XP_011534258.1:p.Ala316Val
XM_011535957.1:c.876+1609C>T	XP_011534259.1:n.876+1609C>T
XM_011535958.1:c.812C>T	XP_011534260.1:p.Ala271Val
XM_011535959.1:c.876+1609C>T	XP_011534261.1:n.876+1609C>T
XM_011535960.1:c.539C>T	XP_011534262.1:p.Ala180Val
XM_011535961.1:c.703-16646C>T	XP_011534263.1:n.703-16646C>T
XM_011535962.1:c.539C>T	XP_011534264.1:p.Ala180Val
XM_011535956.3:c.947C>T	XP_011534258.1:p.Ala316Val
XM_011535957.3:c.876+1609C>T	XP_011534259.1:n.876+1609C>T
XM_011535958.3:c.812C>T	XP_011534260.1:p.Ala271Val
XM_011535959.3:c.876+1609C>T	XP_011534261.1:n.876+1609C>T
XM_011535960.3:c.539C>T	XP_011534262.1:p.Ala180Val
XM_011535961.3:c.703-16646C>T	XP_011534263.1:n.703-16646C>T
XM_011535962.2:c.539C>T	XP_011534264.1:p.Ala180Val
XM_017011082.2:c.947C>T	XP_016866571.1:p.Ala316Val
NM_020381.4:c.947C>T MANE Select	NP_065114.3:p.Ala316Val