Canonical Allele Identifier: CA341847582

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269501G>A (hg19) ; chr1:g.119726878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726878G>A , CM000663.2:g.119726878G>A	GRCh38
NC_000001.10:g.120269501G>A , CM000663.1:g.120269501G>A	GRCh37
NC_000001.9:g.120071024G>A	NCBI36
NG_009188.1:g.20083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.384G>A	ENSP00000358417.5:p.Met128Ile
ENST00000462324.2:n.467G>A
ENST00000641023.2:c.384G>A MANE Select	ENSP00000493175.1:p.Met128Ile
ENST00000641074.1:c.384G>A	ENSP00000493446.1:p.Met128Ile
ENST00000641115.1:c.384G>A	ENSP00000493264.1:p.Met128Ile
ENST00000641213.1:c.*37G>A	ENSP00000493079.1:n.*37G>A
ENST00000641247.1:c.*103G>A	ENSP00000492955.1:n.*103G>A
ENST00000641272.1:c.318G>A	ENSP00000493432.1:p.Met106Ile
ENST00000641314.1:n.369G>A
ENST00000641371.1:c.298G>A	ENSP00000493305.1:p.Glu100Lys
ENST00000641375.1:c.*220G>A	ENSP00000493089.1:n.*220G>A
ENST00000641491.1:c.*37G>A	ENSP00000493187.1:n.*37G>A
ENST00000641513.1:c.*128G>A	ENSP00000493398.1:n.*128G>A
ENST00000641570.1:c.*103G>A	ENSP00000493213.1:n.*103G>A
ENST00000641573.1:n.472G>A
ENST00000641587.1:c.*95G>A	ENSP00000493453.1:n.*95G>A
ENST00000641597.1:c.384G>A	ENSP00000493382.1:p.Met128Ile
ENST00000641711.1:n.608G>A
ENST00000641756.1:c.*128G>A	ENSP00000493147.1:n.*128G>A
ENST00000641811.1:c.140G>A
ENST00000641847.1:n.243G>A
ENST00000641891.1:c.*210G>A	ENSP00000493288.1:n.*210G>A
ENST00000641927.1:n.324G>A
ENST00000641947.1:c.384G>A	ENSP00000492994.1:p.Met128Ile
ENST00000642021.1:n.506G>A
ENST00000642041.1:c.*423G>A	ENSP00000493415.1:n.*423G>A
ENST00000369407.3:c.282G>A	ENSP00000358415.3:p.Met94Ile
ENST00000369409.8:c.384G>A	ENSP00000358417.4:p.Met128Ile
ENST00000462324.1:n.652G>A
ENST00000493622.5:n.573G>A
NM_006623.3:c.384G>A	NP_006614.2:p.Met128Ile
XM_011541226.1:c.606G>A	XP_011539528.1:p.Met202Ile
XM_011541227.1:c.528G>A	XP_011539529.1:p.Met176Ile
XM_011541228.1:c.495G>A	XP_011539530.1:p.Met165Ile
XM_011541229.1:c.321G>A	XP_011539531.1:p.Met107Ile
XM_011541230.1:c.99G>A	XP_011539532.1:p.Met33Ile
XM_011541231.1:c.90G>A	XP_011539533.1:p.Met30Ile
XM_011541226.2:c.606G>A	XP_011539528.1:p.Met202Ile
XM_011541227.2:c.528G>A	XP_011539529.1:p.Met176Ile
XM_011541228.2:c.495G>A	XP_011539530.1:p.Met165Ile
XM_011541231.2:c.90G>A	XP_011539533.1:p.Met30Ile
XM_024446338.1:c.495G>A	XP_024302106.1:p.Met165Ile
NM_006623.4:c.384G>A MANE Select	NP_006614.2:p.Met128Ile