Canonical Allele Identifier: CA365323120

Gene: PDSS2

Linked Data

• gnomAD v4: 6-107245594-A-G
• MyVariant Identifiers: chr6:g.107566798A>G (hg19) ; chr6:g.107245594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245594A>G , CM000668.2:g.107245594A>G	GRCh38
NC_000006.11:g.107566798A>G , CM000668.1:g.107566798A>G	GRCh37
NC_000006.10:g.107673491A>G	NCBI36
NG_013033.1:g.218982T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369037.9:c.656T>C MANE Select	ENSP00000358033.4:p.Leu219Pro
ENST00000369037.8:c.656T>C	ENSP00000358033.4:p.Leu219Pro
NM_020381.3:c.656T>C	NP_065114.3:p.Leu219Pro
XM_011535956.1:c.656T>C	XP_011534258.1:p.Leu219Pro
XM_011535957.1:c.656T>C	XP_011534259.1:p.Leu219Pro
XM_011535958.1:c.521T>C	XP_011534260.1:p.Leu174Pro
XM_011535959.1:c.656T>C	XP_011534261.1:p.Leu219Pro
XM_011535960.1:c.248T>C	XP_011534262.1:p.Leu83Pro
XM_011535961.1:c.656T>C	XP_011534263.1:p.Leu219Pro
XM_011535962.1:c.248T>C	XP_011534264.1:p.Leu83Pro
XM_011535956.3:c.656T>C	XP_011534258.1:p.Leu219Pro
XM_011535957.3:c.656T>C	XP_011534259.1:p.Leu219Pro
XM_011535958.3:c.521T>C	XP_011534260.1:p.Leu174Pro
XM_011535959.3:c.656T>C	XP_011534261.1:p.Leu219Pro
XM_011535960.3:c.248T>C	XP_011534262.1:p.Leu83Pro
XM_011535961.3:c.656T>C	XP_011534263.1:p.Leu219Pro
XM_011535962.2:c.248T>C	XP_011534264.1:p.Leu83Pro
XM_017011082.2:c.656T>C	XP_016866571.1:p.Leu219Pro
NM_020381.4:c.656T>C MANE Select	NP_065114.3:p.Leu219Pro