Canonical Allele Identifier: CA341847613

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269514T>A (hg19) ; chr1:g.119726891T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726891T>A , CM000663.2:g.119726891T>A	GRCh38
NC_000001.10:g.120269514T>A , CM000663.1:g.120269514T>A	GRCh37
NC_000001.9:g.120071037T>A	NCBI36
NG_009188.1:g.20096T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.397T>A	ENSP00000358417.5:p.Trp133Arg
ENST00000462324.2:n.480T>A
ENST00000641023.2:c.397T>A MANE Select	ENSP00000493175.1:p.Trp133Arg
ENST00000641074.1:c.397T>A	ENSP00000493446.1:p.Trp133Arg
ENST00000641115.1:c.397T>A	ENSP00000493264.1:p.Trp133Arg
ENST00000641213.1:c.*50T>A	ENSP00000493079.1:n.*50T>A
ENST00000641247.1:c.*116T>A	ENSP00000492955.1:n.*116T>A
ENST00000641272.1:c.331T>A	ENSP00000493432.1:p.Trp111Arg
ENST00000641314.1:n.382T>A
ENST00000641371.1:c.311T>A	ENSP00000493305.1:p.Met104Lys
ENST00000641375.1:c.*233T>A	ENSP00000493089.1:n.*233T>A
ENST00000641491.1:c.*50T>A	ENSP00000493187.1:n.*50T>A
ENST00000641513.1:c.*141T>A	ENSP00000493398.1:n.*141T>A
ENST00000641570.1:c.*116T>A	ENSP00000493213.1:n.*116T>A
ENST00000641573.1:n.485T>A
ENST00000641587.1:c.*108T>A	ENSP00000493453.1:n.*108T>A
ENST00000641597.1:c.397T>A	ENSP00000493382.1:p.Trp133Arg
ENST00000641711.1:n.621T>A
ENST00000641756.1:c.*141T>A	ENSP00000493147.1:n.*141T>A
ENST00000641811.1:c.153T>A
ENST00000641847.1:n.256T>A
ENST00000641891.1:c.*223T>A	ENSP00000493288.1:n.*223T>A
ENST00000641927.1:n.337T>A
ENST00000641947.1:c.397T>A	ENSP00000492994.1:p.Trp133Arg
ENST00000642021.1:n.519T>A
ENST00000642041.1:c.*436T>A	ENSP00000493415.1:n.*436T>A
ENST00000369407.3:c.295T>A	ENSP00000358415.3:p.Trp99Arg
ENST00000369409.8:c.397T>A	ENSP00000358417.4:p.Trp133Arg
ENST00000462324.1:n.665T>A
ENST00000493622.5:n.586T>A
NM_006623.3:c.397T>A	NP_006614.2:p.Trp133Arg
XM_011541226.1:c.619T>A	XP_011539528.1:p.Trp207Arg
XM_011541227.1:c.541T>A	XP_011539529.1:p.Trp181Arg
XM_011541228.1:c.508T>A	XP_011539530.1:p.Trp170Arg
XM_011541229.1:c.334T>A	XP_011539531.1:p.Trp112Arg
XM_011541230.1:c.112T>A	XP_011539532.1:p.Trp38Arg
XM_011541231.1:c.103T>A	XP_011539533.1:p.Trp35Arg
XM_011541226.2:c.619T>A	XP_011539528.1:p.Trp207Arg
XM_011541227.2:c.541T>A	XP_011539529.1:p.Trp181Arg
XM_011541228.2:c.508T>A	XP_011539530.1:p.Trp170Arg
XM_011541231.2:c.103T>A	XP_011539533.1:p.Trp35Arg
XM_024446338.1:c.508T>A	XP_024302106.1:p.Trp170Arg
NM_006623.4:c.397T>A MANE Select	NP_006614.2:p.Trp133Arg