Canonical Allele Identifier: CA3945899

Gene: PDSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107154685G>A , CM000668.2:g.107154685G>A	GRCh38
NC_000006.11:g.107475889G>A , CM000668.1:g.107475889G>A	GRCh37
NC_000006.10:g.107582582G>A	NCBI36
NG_013033.1:g.309891C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020381.4:c.1134C>T MANE Select	NP_065114.3:p.Ser378=
ENST00000369037.9:c.1134C>T MANE Select	ENSP00000358033.4:p.Ser378=
NM_020381.3:c.1134C>T	NP_065114.3:p.Ser378=
ENST00000369037.8:c.1134C>T	ENSP00000358033.4:p.Ser378=
XM_011535956.1:c.1332C>T	XP_011534258.1:p.Ser444=
XM_011535956.3:c.1332C>T	XP_011534258.1:p.Ser444=
XM_011535957.1:c.1200C>T	XP_011534259.1:p.Ser400=
XM_011535957.3:c.1200C>T	XP_011534259.1:p.Ser400=
XM_011535958.1:c.1197C>T	XP_011534260.1:p.Ser399=
XM_011535958.3:c.1197C>T	XP_011534260.1:p.Ser399=
XM_011535959.1:c.1002C>T	XP_011534261.1:p.Ser334=
XM_011535959.3:c.1002C>T	XP_011534261.1:p.Ser334=
XM_011535960.1:c.924C>T	XP_011534262.1:p.Ser308=
XM_011535960.3:c.924C>T	XP_011534262.1:p.Ser308=
XM_011535961.1:c.828C>T	XP_011534263.1:p.Ser276=
XM_011535961.3:c.828C>T	XP_011534263.1:p.Ser276=
XM_011535962.1:c.726C>T	XP_011534264.1:p.Ser242=
XM_011535962.2:c.726C>T	XP_011534264.1:p.Ser242=