Canonical Allele Identifier: CA451563347

Gene: PDSS2

Linked Data

• gnomAD v4: 6-107210487-T-C
• MyVariant Identifiers: chr6:g.107531691T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210487T>C , CM000668.2:g.107210487T>C	GRCh38
NC_000006.11:g.107531691T>C , CM000668.1:g.107531691T>C	GRCh37
NC_000006.10:g.107638384T>C	NCBI36
NG_013033.1:g.254089A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.960A>G MANE Select	ENSP00000358033.4:p.Leu320=
ENST00000369037.8:c.960A>G	ENSP00000358033.4:p.Leu320=
ENST00000449027.1:c.135A>G	ENSP00000392613.1:p.Leu45=
NM_020381.3:c.960A>G	NP_065114.3:p.Leu320=
XM_011535956.1:c.960A>G	XP_011534258.1:p.Leu320=
XM_011535957.1:c.876+1622A>G	XP_011534259.1:n.876+1622A>G
XM_011535958.1:c.825A>G	XP_011534260.1:p.Leu275=
XM_011535959.1:c.876+1622A>G	XP_011534261.1:n.876+1622A>G
XM_011535960.1:c.552A>G	XP_011534262.1:p.Leu184=
XM_011535961.1:c.703-16633A>G	XP_011534263.1:n.703-16633A>G
XM_011535962.1:c.552A>G	XP_011534264.1:p.Leu184=
XM_011535956.3:c.960A>G	XP_011534258.1:p.Leu320=
XM_011535957.3:c.876+1622A>G	XP_011534259.1:n.876+1622A>G
XM_011535958.3:c.825A>G	XP_011534260.1:p.Leu275=
XM_011535959.3:c.876+1622A>G	XP_011534261.1:n.876+1622A>G
XM_011535960.3:c.552A>G	XP_011534262.1:p.Leu184=
XM_011535961.3:c.703-16633A>G	XP_011534263.1:n.703-16633A>G
XM_011535962.2:c.552A>G	XP_011534264.1:p.Leu184=
XM_017011082.2:c.960A>G	XP_016866571.1:p.Leu320=
NM_020381.4:c.960A>G MANE Select	NP_065114.3:p.Leu320=