Canonical Allele Identifier: CA365323125

Gene: PDSS2

Linked Data

• MyVariant Identifiers: chr6:g.107566801G>C (hg19) ; chr6:g.107245597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245597G>C , CM000668.2:g.107245597G>C	GRCh38
NC_000006.11:g.107566801G>C , CM000668.1:g.107566801G>C	GRCh37
NC_000006.10:g.107673494G>C	NCBI36
NG_013033.1:g.218979C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.653C>G MANE Select	ENSP00000358033.4:p.Ala218Gly
ENST00000369037.8:c.653C>G	ENSP00000358033.4:p.Ala218Gly
NM_020381.3:c.653C>G	NP_065114.3:p.Ala218Gly
XM_011535956.1:c.653C>G	XP_011534258.1:p.Ala218Gly
XM_011535957.1:c.653C>G	XP_011534259.1:p.Ala218Gly
XM_011535958.1:c.518C>G	XP_011534260.1:p.Ala173Gly
XM_011535959.1:c.653C>G	XP_011534261.1:p.Ala218Gly
XM_011535960.1:c.245C>G	XP_011534262.1:p.Ala82Gly
XM_011535961.1:c.653C>G	XP_011534263.1:p.Ala218Gly
XM_011535962.1:c.245C>G	XP_011534264.1:p.Ala82Gly
XM_011535956.3:c.653C>G	XP_011534258.1:p.Ala218Gly
XM_011535957.3:c.653C>G	XP_011534259.1:p.Ala218Gly
XM_011535958.3:c.518C>G	XP_011534260.1:p.Ala173Gly
XM_011535959.3:c.653C>G	XP_011534261.1:p.Ala218Gly
XM_011535960.3:c.245C>G	XP_011534262.1:p.Ala82Gly
XM_011535961.3:c.653C>G	XP_011534263.1:p.Ala218Gly
XM_011535962.2:c.245C>G	XP_011534264.1:p.Ala82Gly
XM_017011082.2:c.653C>G	XP_016866571.1:p.Ala218Gly
NM_020381.4:c.653C>G MANE Select	NP_065114.3:p.Ala218Gly