Canonical Allele Identifier: CA2679872486

Gene: PDSS2

Linked Data

• gnomAD v4: 6-107210577-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107210577G>T , CM000668.2:g.107210577G>T	GRCh38
NC_000006.11:g.107531781G>T , CM000668.1:g.107531781G>T	GRCh37
NC_000006.10:g.107638474G>T	NCBI36
NG_013033.1:g.253999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.877-7C>A MANE Select	ENSP00000358033.4:n.877-7C>A
ENST00000369037.8:c.877-7C>A	ENSP00000358033.4:n.877-7C>A
ENST00000449027.1:c.52-7C>A	ENSP00000392613.1:n.52-7C>A
NM_020381.3:c.877-7C>A	NP_065114.3:n.877-7C>A
XM_011535956.1:c.877-7C>A	XP_011534258.1:n.877-7C>A
XM_011535957.1:c.876+1532C>A	XP_011534259.1:n.876+1532C>A
XM_011535958.1:c.742-7C>A	XP_011534260.1:n.742-7C>A
XM_011535959.1:c.876+1532C>A	XP_011534261.1:n.876+1532C>A
XM_011535960.1:c.469-7C>A	XP_011534262.1:n.469-7C>A
XM_011535961.1:c.703-16723C>A	XP_011534263.1:n.703-16723C>A
XM_011535962.1:c.469-7C>A	XP_011534264.1:n.469-7C>A
XM_011535956.3:c.877-7C>A	XP_011534258.1:n.877-7C>A
XM_011535957.3:c.876+1532C>A	XP_011534259.1:n.876+1532C>A
XM_011535958.3:c.742-7C>A	XP_011534260.1:n.742-7C>A
XM_011535959.3:c.876+1532C>A	XP_011534261.1:n.876+1532C>A
XM_011535960.3:c.469-7C>A	XP_011534262.1:n.469-7C>A
XM_011535961.3:c.703-16723C>A	XP_011534263.1:n.703-16723C>A
XM_011535962.2:c.469-7C>A	XP_011534264.1:n.469-7C>A
XM_017011082.2:c.877-7C>A	XP_016866571.1:n.877-7C>A
NM_020381.4:c.877-7C>A MANE Select	NP_065114.3:n.877-7C>A