Canonical Allele Identifier: CA341847662

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269629C>A (hg19) ; chr1:g.119727006C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.414C>A	ENSP00000358417.5:p.Phe138Leu
ENST00000462324.2:n.497C>A
ENST00000641023.2:c.414C>A MANE Select	ENSP00000493175.1:p.Phe138Leu
ENST00000641074.1:c.414C>A	ENSP00000493446.1:p.Phe138Leu
ENST00000641115.1:c.414C>A	ENSP00000493264.1:p.Phe138Leu
ENST00000641213.1:c.*67C>A	ENSP00000493079.1:n.*67C>A
ENST00000641247.1:c.*133C>A	ENSP00000492955.1:n.*133C>A
ENST00000641272.1:c.348C>A	ENSP00000493432.1:p.Phe116Leu
ENST00000641314.1:n.399C>A
ENST00000641371.1:c.328C>A	ENSP00000493305.1:p.His110Asn
ENST00000641375.1:c.*250C>A	ENSP00000493089.1:n.*250C>A
ENST00000641491.1:c.*67C>A	ENSP00000493187.1:n.*67C>A
ENST00000641570.1:c.*133C>A	ENSP00000493213.1:n.*133C>A
ENST00000641573.1:n.502C>A
ENST00000641587.1:c.*125C>A	ENSP00000493453.1:n.*125C>A
ENST00000641597.1:c.414C>A	ENSP00000493382.1:p.Phe138Leu
ENST00000641711.1:n.638C>A
ENST00000641756.1:c.*158C>A	ENSP00000493147.1:n.*158C>A
ENST00000641811.1:c.170C>A
ENST00000641847.1:n.273C>A
ENST00000641891.1:c.*240C>A	ENSP00000493288.1:n.*240C>A
ENST00000641927.1:n.354C>A
ENST00000641947.1:c.414C>A	ENSP00000492994.1:p.Phe138Leu
ENST00000642021.1:n.536C>A
ENST00000642041.1:c.*453C>A	ENSP00000493415.1:n.*453C>A
ENST00000369407.3:c.312C>A	ENSP00000358415.3:p.Phe104Leu
ENST00000369409.8:c.414C>A	ENSP00000358417.4:p.Phe138Leu
ENST00000462324.1:n.682C>A
ENST00000493622.5:n.603C>A
NM_006623.3:c.414C>A	NP_006614.2:p.Phe138Leu
XM_011541226.1:c.636C>A	XP_011539528.1:p.Phe212Leu
XM_011541227.1:c.558C>A	XP_011539529.1:p.Phe186Leu
XM_011541228.1:c.525C>A	XP_011539530.1:p.Phe175Leu
XM_011541229.1:c.351C>A	XP_011539531.1:p.Phe117Leu
XM_011541230.1:c.129C>A	XP_011539532.1:p.Phe43Leu
XM_011541231.1:c.120C>A	XP_011539533.1:p.Phe40Leu
XM_011541226.2:c.636C>A	XP_011539528.1:p.Phe212Leu
XM_011541227.2:c.558C>A	XP_011539529.1:p.Phe186Leu
XM_011541228.2:c.525C>A	XP_011539530.1:p.Phe175Leu
XM_011541231.2:c.120C>A	XP_011539533.1:p.Phe40Leu
XM_024446338.1:c.525C>A	XP_024302106.1:p.Phe175Leu
NM_006623.4:c.414C>A MANE Select	NP_006614.2:p.Phe138Leu