Canonical Allele Identifier: CA2679875425

Gene: PDSS2

Linked Data

• gnomAD v4: 6-107245502-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245502C>A , CM000668.2:g.107245502C>A	GRCh38
NC_000006.11:g.107566706C>A , CM000668.1:g.107566706C>A	GRCh37
NC_000006.10:g.107673399C>A	NCBI36
NG_013033.1:g.219074G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.702+46G>T MANE Select	ENSP00000358033.4:n.702+46G>T
ENST00000369037.8:c.702+46G>T	ENSP00000358033.4:n.702+46G>T
NM_020381.3:c.702+46G>T	NP_065114.3:n.702+46G>T
XM_011535956.1:c.702+46G>T	XP_011534258.1:n.702+46G>T
XM_011535957.1:c.702+46G>T	XP_011534259.1:n.702+46G>T
XM_011535958.1:c.567+46G>T	XP_011534260.1:n.567+46G>T
XM_011535959.1:c.702+46G>T	XP_011534261.1:n.702+46G>T
XM_011535960.1:c.294+46G>T	XP_011534262.1:n.294+46G>T
XM_011535961.1:c.702+46G>T	XP_011534263.1:n.702+46G>T
XM_011535962.1:c.294+46G>T	XP_011534264.1:n.294+46G>T
XM_011535956.3:c.702+46G>T	XP_011534258.1:n.702+46G>T
XM_011535957.3:c.702+46G>T	XP_011534259.1:n.702+46G>T
XM_011535958.3:c.567+46G>T	XP_011534260.1:n.567+46G>T
XM_011535959.3:c.702+46G>T	XP_011534261.1:n.702+46G>T
XM_011535960.3:c.294+46G>T	XP_011534262.1:n.294+46G>T
XM_011535961.3:c.702+46G>T	XP_011534263.1:n.702+46G>T
XM_011535962.2:c.294+46G>T	XP_011534264.1:n.294+46G>T
XM_017011082.2:c.702+46G>T	XP_016866571.1:n.702+46G>T
NM_020381.4:c.702+46G>T MANE Select	NP_065114.3:n.702+46G>T