Canonical Allele Identifier: CA420012745

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269495T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726872T>A , CM000663.2:g.119726872T>A	GRCh38
NC_000001.10:g.120269495T>A , CM000663.1:g.120269495T>A	GRCh37
NC_000001.9:g.120071018T>A	NCBI36
NG_009188.1:g.20077T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.378T>A	ENSP00000358417.5:p.Ala126=
ENST00000462324.2:n.461T>A
ENST00000641023.2:c.378T>A MANE Select	ENSP00000493175.1:p.Ala126=
ENST00000641074.1:c.378T>A	ENSP00000493446.1:p.Ala126=
ENST00000641115.1:c.378T>A	ENSP00000493264.1:p.Ala126=
ENST00000641213.1:c.*31T>A	ENSP00000493079.1:n.*31T>A
ENST00000641247.1:c.*97T>A	ENSP00000492955.1:n.*97T>A
ENST00000641272.1:c.312T>A	ENSP00000493432.1:p.Ala104=
ENST00000641314.1:n.363T>A
ENST00000641371.1:c.292T>A	ENSP00000493305.1:p.Phe98Ile
ENST00000641375.1:c.*214T>A	ENSP00000493089.1:n.*214T>A
ENST00000641491.1:c.*31T>A	ENSP00000493187.1:n.*31T>A
ENST00000641513.1:c.*122T>A	ENSP00000493398.1:n.*122T>A
ENST00000641570.1:c.*97T>A	ENSP00000493213.1:n.*97T>A
ENST00000641573.1:n.466T>A
ENST00000641587.1:c.*89T>A	ENSP00000493453.1:n.*89T>A
ENST00000641597.1:c.378T>A	ENSP00000493382.1:p.Ala126=
ENST00000641711.1:n.602T>A
ENST00000641756.1:c.*122T>A	ENSP00000493147.1:n.*122T>A
ENST00000641811.1:c.134T>A
ENST00000641847.1:n.237T>A
ENST00000641891.1:c.*204T>A	ENSP00000493288.1:n.*204T>A
ENST00000641927.1:n.318T>A
ENST00000641947.1:c.378T>A	ENSP00000492994.1:p.Ala126=
ENST00000642021.1:n.500T>A
ENST00000642041.1:c.*417T>A	ENSP00000493415.1:n.*417T>A
ENST00000369407.3:c.276T>A	ENSP00000358415.3:p.Ala92=
ENST00000369409.8:c.378T>A	ENSP00000358417.4:p.Ala126=
ENST00000462324.1:n.646T>A
ENST00000493622.5:n.567T>A
NM_006623.3:c.378T>A	NP_006614.2:p.Ala126=
XM_011541226.1:c.600T>A	XP_011539528.1:p.Ala200=
XM_011541227.1:c.522T>A	XP_011539529.1:p.Ala174=
XM_011541228.1:c.489T>A	XP_011539530.1:p.Ala163=
XM_011541229.1:c.315T>A	XP_011539531.1:p.Ala105=
XM_011541230.1:c.93T>A	XP_011539532.1:p.Ala31=
XM_011541231.1:c.84T>A	XP_011539533.1:p.Ala28=
XM_011541226.2:c.600T>A	XP_011539528.1:p.Ala200=
XM_011541227.2:c.522T>A	XP_011539529.1:p.Ala174=
XM_011541228.2:c.489T>A	XP_011539530.1:p.Ala163=
XM_011541231.2:c.84T>A	XP_011539533.1:p.Ala28=
XM_024446338.1:c.489T>A	XP_024302106.1:p.Ala163=
NM_006623.4:c.378T>A MANE Select	NP_006614.2:p.Ala126=