Canonical Allele Identifier: CA341847619

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2883978
• ClinVar RCV Id: RCV003610730
• dbSNP Id: rs1651447610
• MyVariant Identifiers: chr1:g.120269516G>A (hg19) ; chr1:g.119726893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726893G>A , CM000663.2:g.119726893G>A	GRCh38
NC_000001.10:g.120269516G>A , CM000663.1:g.120269516G>A	GRCh37
NC_000001.9:g.120071039G>A	NCBI36
NG_009188.1:g.20098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.399G>A	ENSP00000358417.5:p.Trp133Ter
ENST00000462324.2:n.482G>A
ENST00000641023.2:c.399G>A MANE Select	ENSP00000493175.1:p.Trp133Ter
ENST00000641074.1:c.399G>A	ENSP00000493446.1:p.Trp133Ter
ENST00000641115.1:c.399G>A	ENSP00000493264.1:p.Trp133Ter
ENST00000641213.1:c.*52G>A	ENSP00000493079.1:n.*52G>A
ENST00000641247.1:c.*118G>A	ENSP00000492955.1:n.*118G>A
ENST00000641272.1:c.333G>A	ENSP00000493432.1:p.Trp111Ter
ENST00000641314.1:n.384G>A
ENST00000641371.1:c.313G>A	ENSP00000493305.1:p.Gly105Arg
ENST00000641375.1:c.*235G>A	ENSP00000493089.1:n.*235G>A
ENST00000641491.1:c.*52G>A	ENSP00000493187.1:n.*52G>A
ENST00000641513.1:c.*143G>A	ENSP00000493398.1:n.*143G>A
ENST00000641570.1:c.*118G>A	ENSP00000493213.1:n.*118G>A
ENST00000641573.1:n.487G>A
ENST00000641587.1:c.*110G>A	ENSP00000493453.1:n.*110G>A
ENST00000641597.1:c.399G>A	ENSP00000493382.1:p.Trp133Ter
ENST00000641711.1:n.623G>A
ENST00000641756.1:c.*143G>A	ENSP00000493147.1:n.*143G>A
ENST00000641811.1:c.155G>A
ENST00000641847.1:n.258G>A
ENST00000641891.1:c.*225G>A	ENSP00000493288.1:n.*225G>A
ENST00000641927.1:n.339G>A
ENST00000641947.1:c.399G>A	ENSP00000492994.1:p.Trp133Ter
ENST00000642021.1:n.521G>A
ENST00000642041.1:c.*438G>A	ENSP00000493415.1:n.*438G>A
ENST00000369407.3:c.297G>A	ENSP00000358415.3:p.Trp99Ter
ENST00000369409.8:c.399G>A	ENSP00000358417.4:p.Trp133Ter
ENST00000462324.1:n.667G>A
ENST00000493622.5:n.588G>A
NM_006623.3:c.399G>A	NP_006614.2:p.Trp133Ter
XM_011541226.1:c.621G>A	XP_011539528.1:p.Trp207Ter
XM_011541227.1:c.543G>A	XP_011539529.1:p.Trp181Ter
XM_011541228.1:c.510G>A	XP_011539530.1:p.Trp170Ter
XM_011541229.1:c.336G>A	XP_011539531.1:p.Trp112Ter
XM_011541230.1:c.114G>A	XP_011539532.1:p.Trp38Ter
XM_011541231.1:c.105G>A	XP_011539533.1:p.Trp35Ter
XM_011541226.2:c.621G>A	XP_011539528.1:p.Trp207Ter
XM_011541227.2:c.543G>A	XP_011539529.1:p.Trp181Ter
XM_011541228.2:c.510G>A	XP_011539530.1:p.Trp170Ter
XM_011541231.2:c.105G>A	XP_011539533.1:p.Trp35Ter
XM_024446338.1:c.510G>A	XP_024302106.1:p.Trp170Ter
NM_006623.4:c.399G>A MANE Select	NP_006614.2:p.Trp133Ter