Canonical Allele Identifier: CA365322544

Gene: PDSS2

Linked Data

• MyVariant Identifiers: chr6:g.107531699C>G (hg19) ; chr6:g.107210495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210495C>G , CM000668.2:g.107210495C>G	GRCh38
NC_000006.11:g.107531699C>G , CM000668.1:g.107531699C>G	GRCh37
NC_000006.10:g.107638392C>G	NCBI36
NG_013033.1:g.254081G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.952G>C MANE Select	ENSP00000358033.4:p.Val318Leu
ENST00000369037.8:c.952G>C	ENSP00000358033.4:p.Val318Leu
ENST00000449027.1:c.127G>C	ENSP00000392613.1:p.Val43Leu
NM_020381.3:c.952G>C	NP_065114.3:p.Val318Leu
XM_011535956.1:c.952G>C	XP_011534258.1:p.Val318Leu
XM_011535957.1:c.876+1614G>C	XP_011534259.1:n.876+1614G>C
XM_011535958.1:c.817G>C	XP_011534260.1:p.Val273Leu
XM_011535959.1:c.876+1614G>C	XP_011534261.1:n.876+1614G>C
XM_011535960.1:c.544G>C	XP_011534262.1:p.Val182Leu
XM_011535961.1:c.703-16641G>C	XP_011534263.1:n.703-16641G>C
XM_011535962.1:c.544G>C	XP_011534264.1:p.Val182Leu
XM_011535956.3:c.952G>C	XP_011534258.1:p.Val318Leu
XM_011535957.3:c.876+1614G>C	XP_011534259.1:n.876+1614G>C
XM_011535958.3:c.817G>C	XP_011534260.1:p.Val273Leu
XM_011535959.3:c.876+1614G>C	XP_011534261.1:n.876+1614G>C
XM_011535960.3:c.544G>C	XP_011534262.1:p.Val182Leu
XM_011535961.3:c.703-16641G>C	XP_011534263.1:n.703-16641G>C
XM_011535962.2:c.544G>C	XP_011534264.1:p.Val182Leu
XM_017011082.2:c.952G>C	XP_016866571.1:p.Val318Leu
NM_020381.4:c.952G>C MANE Select	NP_065114.3:p.Val318Leu