Canonical Allele Identifier: CA341847812

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269703G>T (hg19) ; chr1:g.119727080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727080G>T , CM000663.2:g.119727080G>T	GRCh38
NC_000001.10:g.120269703G>T , CM000663.1:g.120269703G>T	GRCh37
NC_000001.9:g.120071226G>T	NCBI36
NG_009188.1:g.20285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.488G>T	ENSP00000358417.5:p.Arg163Leu
ENST00000462324.2:n.571G>T
ENST00000641023.2:c.488G>T MANE Select	ENSP00000493175.1:p.Arg163Leu
ENST00000641074.1:c.488G>T	ENSP00000493446.1:p.Arg163Leu
ENST00000641115.1:c.488G>T	ENSP00000493264.1:p.Arg163Leu
ENST00000641213.1:c.*141G>T	ENSP00000493079.1:n.*141G>T
ENST00000641247.1:c.*207G>T	ENSP00000492955.1:n.*207G>T
ENST00000641272.1:c.422G>T	ENSP00000493432.1:p.Arg141Leu
ENST00000641314.1:n.473G>T
ENST00000641371.1:c.402G>T	ENSP00000493305.1:p.Pro134=
ENST00000641375.1:c.*324G>T	ENSP00000493089.1:n.*324G>T
ENST00000641455.1:n.33G>T
ENST00000641491.1:c.*141G>T	ENSP00000493187.1:n.*141G>T
ENST00000641570.1:c.*207G>T	ENSP00000493213.1:n.*207G>T
ENST00000641573.1:n.576G>T
ENST00000641587.1:c.*199G>T	ENSP00000493453.1:n.*199G>T
ENST00000641597.1:c.488G>T	ENSP00000493382.1:p.Arg163Leu
ENST00000641711.1:n.712G>T
ENST00000641756.1:c.*232G>T	ENSP00000493147.1:n.*232G>T
ENST00000641811.1:c.244G>T
ENST00000641847.1:n.347G>T
ENST00000641891.1:c.*314G>T	ENSP00000493288.1:n.*314G>T
ENST00000641927.1:n.428G>T
ENST00000641947.1:c.488G>T	ENSP00000492994.1:p.Arg163Leu
ENST00000642021.1:n.610G>T
ENST00000369407.3:c.386G>T	ENSP00000358415.3:p.Arg129Leu
ENST00000369409.8:c.488G>T	ENSP00000358417.4:p.Arg163Leu
ENST00000462324.1:n.756G>T
ENST00000493622.5:n.677G>T
NM_006623.3:c.488G>T	NP_006614.2:p.Arg163Leu
XM_011541226.1:c.710G>T	XP_011539528.1:p.Arg237Leu
XM_011541227.1:c.632G>T	XP_011539529.1:p.Arg211Leu
XM_011541228.1:c.599G>T	XP_011539530.1:p.Arg200Leu
XM_011541229.1:c.425G>T	XP_011539531.1:p.Arg142Leu
XM_011541230.1:c.203G>T	XP_011539532.1:p.Arg68Leu
XM_011541231.1:c.194G>T	XP_011539533.1:p.Arg65Leu
XM_011541226.2:c.710G>T	XP_011539528.1:p.Arg237Leu
XM_011541227.2:c.632G>T	XP_011539529.1:p.Arg211Leu
XM_011541228.2:c.599G>T	XP_011539530.1:p.Arg200Leu
XM_011541231.2:c.194G>T	XP_011539533.1:p.Arg65Leu
XM_024446338.1:c.599G>T	XP_024302106.1:p.Arg200Leu
NM_006623.4:c.488G>T MANE Select	NP_006614.2:p.Arg163Leu