Canonical Allele Identifier: CA420012766

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269629C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727006C>T , CM000663.2:g.119727006C>T	GRCh38
NC_000001.10:g.120269629C>T , CM000663.1:g.120269629C>T	GRCh37
NC_000001.9:g.120071152C>T	NCBI36
NG_009188.1:g.20211C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.414C>T	ENSP00000358417.5:p.Phe138=
ENST00000462324.2:n.497C>T
ENST00000641023.2:c.414C>T MANE Select	ENSP00000493175.1:p.Phe138=
ENST00000641074.1:c.414C>T	ENSP00000493446.1:p.Phe138=
ENST00000641115.1:c.414C>T	ENSP00000493264.1:p.Phe138=
ENST00000641213.1:c.*67C>T	ENSP00000493079.1:n.*67C>T
ENST00000641247.1:c.*133C>T	ENSP00000492955.1:n.*133C>T
ENST00000641272.1:c.348C>T	ENSP00000493432.1:p.Phe116=
ENST00000641314.1:n.399C>T
ENST00000641371.1:c.328C>T	ENSP00000493305.1:p.His110Tyr
ENST00000641375.1:c.*250C>T	ENSP00000493089.1:n.*250C>T
ENST00000641491.1:c.*67C>T	ENSP00000493187.1:n.*67C>T
ENST00000641570.1:c.*133C>T	ENSP00000493213.1:n.*133C>T
ENST00000641573.1:n.502C>T
ENST00000641587.1:c.*125C>T	ENSP00000493453.1:n.*125C>T
ENST00000641597.1:c.414C>T	ENSP00000493382.1:p.Phe138=
ENST00000641711.1:n.638C>T
ENST00000641756.1:c.*158C>T	ENSP00000493147.1:n.*158C>T
ENST00000641811.1:c.170C>T
ENST00000641847.1:n.273C>T
ENST00000641891.1:c.*240C>T	ENSP00000493288.1:n.*240C>T
ENST00000641927.1:n.354C>T
ENST00000641947.1:c.414C>T	ENSP00000492994.1:p.Phe138=
ENST00000642021.1:n.536C>T
ENST00000642041.1:c.*453C>T	ENSP00000493415.1:n.*453C>T
ENST00000369407.3:c.312C>T	ENSP00000358415.3:p.Phe104=
ENST00000369409.8:c.414C>T	ENSP00000358417.4:p.Phe138=
ENST00000462324.1:n.682C>T
ENST00000493622.5:n.603C>T
NM_006623.3:c.414C>T	NP_006614.2:p.Phe138=
XM_011541226.1:c.636C>T	XP_011539528.1:p.Phe212=
XM_011541227.1:c.558C>T	XP_011539529.1:p.Phe186=
XM_011541228.1:c.525C>T	XP_011539530.1:p.Phe175=
XM_011541229.1:c.351C>T	XP_011539531.1:p.Phe117=
XM_011541230.1:c.129C>T	XP_011539532.1:p.Phe43=
XM_011541231.1:c.120C>T	XP_011539533.1:p.Phe40=
XM_011541226.2:c.636C>T	XP_011539528.1:p.Phe212=
XM_011541227.2:c.558C>T	XP_011539529.1:p.Phe186=
XM_011541228.2:c.525C>T	XP_011539530.1:p.Phe175=
XM_011541231.2:c.120C>T	XP_011539533.1:p.Phe40=
XM_024446338.1:c.525C>T	XP_024302106.1:p.Phe175=
NM_006623.4:c.414C>T MANE Select	NP_006614.2:p.Phe138=