Canonical Allele Identifier: CA341847834

Gene: PHGDH

Linked Data

• COSMIC: COSM140957
• MyVariant Identifiers: chr1:g.120269712C>T (hg19) ; chr1:g.119727089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727089C>T , CM000663.2:g.119727089C>T	GRCh38
NC_000001.10:g.120269712C>T , CM000663.1:g.120269712C>T	GRCh37
NC_000001.9:g.120071235C>T	NCBI36
NG_009188.1:g.20294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.497C>T	ENSP00000358417.5:p.Ser166Phe
ENST00000462324.2:n.580C>T
ENST00000641023.2:c.497C>T MANE Select	ENSP00000493175.1:p.Ser166Phe
ENST00000641074.1:c.497C>T	ENSP00000493446.1:p.Ser166Phe
ENST00000641115.1:c.497C>T	ENSP00000493264.1:p.Ser166Phe
ENST00000641213.1:c.*150C>T	ENSP00000493079.1:n.*150C>T
ENST00000641247.1:c.*216C>T	ENSP00000492955.1:n.*216C>T
ENST00000641272.1:c.431C>T	ENSP00000493432.1:p.Ser144Phe
ENST00000641314.1:n.482C>T
ENST00000641371.1:c.411C>T	ENSP00000493305.1:p.Val137=
ENST00000641375.1:c.*333C>T	ENSP00000493089.1:n.*333C>T
ENST00000641455.1:n.42C>T
ENST00000641491.1:c.*150C>T	ENSP00000493187.1:n.*150C>T
ENST00000641570.1:c.*216C>T	ENSP00000493213.1:n.*216C>T
ENST00000641573.1:n.585C>T
ENST00000641587.1:c.*208C>T	ENSP00000493453.1:n.*208C>T
ENST00000641597.1:c.497C>T	ENSP00000493382.1:p.Ser166Phe
ENST00000641756.1:c.*241C>T	ENSP00000493147.1:n.*241C>T
ENST00000641811.1:c.253C>T
ENST00000641847.1:n.356C>T
ENST00000641891.1:c.*323C>T	ENSP00000493288.1:n.*323C>T
ENST00000641927.1:n.437C>T
ENST00000641947.1:c.497C>T	ENSP00000492994.1:p.Ser166Phe
ENST00000642021.1:n.619C>T
ENST00000369407.3:c.395C>T	ENSP00000358415.3:p.Ser132Phe
ENST00000369409.8:c.497C>T	ENSP00000358417.4:p.Ser166Phe
ENST00000462324.1:n.765C>T
ENST00000493622.5:n.686C>T
NM_006623.3:c.497C>T	NP_006614.2:p.Ser166Phe
XM_011541226.1:c.719C>T	XP_011539528.1:p.Ser240Phe
XM_011541227.1:c.641C>T	XP_011539529.1:p.Ser214Phe
XM_011541228.1:c.608C>T	XP_011539530.1:p.Ser203Phe
XM_011541229.1:c.434C>T	XP_011539531.1:p.Ser145Phe
XM_011541230.1:c.212C>T	XP_011539532.1:p.Ser71Phe
XM_011541231.1:c.203C>T	XP_011539533.1:p.Ser68Phe
XM_011541226.2:c.719C>T	XP_011539528.1:p.Ser240Phe
XM_011541227.2:c.641C>T	XP_011539529.1:p.Ser214Phe
XM_011541228.2:c.608C>T	XP_011539530.1:p.Ser203Phe
XM_011541231.2:c.203C>T	XP_011539533.1:p.Ser68Phe
XM_024446338.1:c.608C>T	XP_024302106.1:p.Ser203Phe
NM_006623.4:c.497C>T MANE Select	NP_006614.2:p.Ser166Phe