Canonical Allele Identifier: CA341847841

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269716T>G (hg19) ; chr1:g.119727093T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727093T>G , CM000663.2:g.119727093T>G	GRCh38
NC_000001.10:g.120269716T>G , CM000663.1:g.120269716T>G	GRCh37
NC_000001.9:g.120071239T>G	NCBI36
NG_009188.1:g.20298T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.501T>G	ENSP00000358417.5:p.Phe167Leu
ENST00000462324.2:n.584T>G
ENST00000641023.2:c.501T>G MANE Select	ENSP00000493175.1:p.Phe167Leu
ENST00000641074.1:c.501T>G	ENSP00000493446.1:p.Phe167Leu
ENST00000641115.1:c.501T>G	ENSP00000493264.1:p.Phe167Leu
ENST00000641213.1:c.*154T>G	ENSP00000493079.1:n.*154T>G
ENST00000641247.1:c.*220T>G	ENSP00000492955.1:n.*220T>G
ENST00000641272.1:c.435T>G	ENSP00000493432.1:p.Phe145Leu
ENST00000641314.1:n.486T>G
ENST00000641371.1:c.415T>G	ENSP00000493305.1:p.Trp139Gly
ENST00000641375.1:c.*337T>G	ENSP00000493089.1:n.*337T>G
ENST00000641455.1:n.46T>G
ENST00000641491.1:c.*154T>G	ENSP00000493187.1:n.*154T>G
ENST00000641570.1:c.*220T>G	ENSP00000493213.1:n.*220T>G
ENST00000641573.1:n.589T>G
ENST00000641587.1:c.*212T>G	ENSP00000493453.1:n.*212T>G
ENST00000641597.1:c.501T>G	ENSP00000493382.1:p.Phe167Leu
ENST00000641756.1:c.*245T>G	ENSP00000493147.1:n.*245T>G
ENST00000641811.1:c.257T>G
ENST00000641847.1:n.360T>G
ENST00000641891.1:c.*327T>G	ENSP00000493288.1:n.*327T>G
ENST00000641927.1:n.441T>G
ENST00000641947.1:c.501T>G	ENSP00000492994.1:p.Phe167Leu
ENST00000642021.1:n.623T>G
ENST00000369407.3:c.399T>G	ENSP00000358415.3:p.Phe133Leu
ENST00000369409.8:c.501T>G	ENSP00000358417.4:p.Phe167Leu
ENST00000462324.1:n.769T>G
ENST00000493622.5:n.690T>G
NM_006623.3:c.501T>G	NP_006614.2:p.Phe167Leu
XM_011541226.1:c.723T>G	XP_011539528.1:p.Phe241Leu
XM_011541227.1:c.645T>G	XP_011539529.1:p.Phe215Leu
XM_011541228.1:c.612T>G	XP_011539530.1:p.Phe204Leu
XM_011541229.1:c.438T>G	XP_011539531.1:p.Phe146Leu
XM_011541230.1:c.216T>G	XP_011539532.1:p.Phe72Leu
XM_011541231.1:c.207T>G	XP_011539533.1:p.Phe69Leu
XM_011541226.2:c.723T>G	XP_011539528.1:p.Phe241Leu
XM_011541227.2:c.645T>G	XP_011539529.1:p.Phe215Leu
XM_011541228.2:c.612T>G	XP_011539530.1:p.Phe204Leu
XM_011541231.2:c.207T>G	XP_011539533.1:p.Phe69Leu
XM_024446338.1:c.612T>G	XP_024302106.1:p.Phe204Leu
NM_006623.4:c.501T>G MANE Select	NP_006614.2:p.Phe167Leu