Canonical Allele Identifier: CA2679875698

Gene: PDSS2

Linked Data

• gnomAD v4: 6-107458927-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107458927G>A , CM000668.2:g.107458927G>A	GRCh38
NC_000006.11:g.107780131G>A , CM000668.1:g.107780131G>A	GRCh37
NC_000006.10:g.107886824G>A	NCBI36
NG_013033.1:g.5649C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.296+63C>T MANE Select	ENSP00000358033.4:n.296+63C>T
ENST00000369031.4:c.296+63C>T	ENSP00000358027.4:n.296+63C>T
ENST00000369037.8:c.296+63C>T	ENSP00000358033.4:n.296+63C>T
NM_020381.3:c.296+63C>T	NP_065114.3:n.296+63C>T
XM_011535956.1:c.296+63C>T	XP_011534258.1:n.296+63C>T
XM_011535957.1:c.296+63C>T	XP_011534259.1:n.296+63C>T
XM_011535958.1:c.296+63C>T	XP_011534260.1:n.296+63C>T
XM_011535959.1:c.296+63C>T	XP_011534261.1:n.296+63C>T
XM_011535960.1:c.-113+441C>T	XP_011534262.1:n.-113+441C>T
XM_011535961.1:c.296+63C>T	XP_011534263.1:n.296+63C>T
XM_011535962.1:c.-113+441C>T	XP_011534264.1:n.-113+441C>T
XM_011535963.1:c.296+63C>T	XP_011534265.1:n.296+63C>T
XM_011535956.3:c.296+63C>T	XP_011534258.1:n.296+63C>T
XM_011535957.3:c.296+63C>T	XP_011534259.1:n.296+63C>T
XM_011535958.3:c.296+63C>T	XP_011534260.1:n.296+63C>T
XM_011535959.3:c.296+63C>T	XP_011534261.1:n.296+63C>T
XM_011535960.3:c.-113+441C>T	XP_011534262.1:n.-113+441C>T
XM_011535961.3:c.296+63C>T	XP_011534263.1:n.296+63C>T
XM_011535962.2:c.-113+441C>T	XP_011534264.1:n.-113+441C>T
XM_011535963.3:c.296+63C>T	XP_011534265.1:n.296+63C>T
XM_017011082.2:c.296+63C>T	XP_016866571.1:n.296+63C>T
NM_020381.4:c.296+63C>T MANE Select	NP_065114.3:n.296+63C>T