Canonical Allele Identifier: CA341854323

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743931C>T , CM000663.2:g.119743931C>T	GRCh38
NC_000001.10:g.120286554C>T , CM000663.1:g.120286554C>T	GRCh37
NC_000001.9:g.120088077C>T	NCBI36
NG_009188.1:g.37136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1512C>T	ENSP00000358417.5:p.Phe504=
ENST00000641023.2:c.1493C>T MANE Select	ENSP00000493175.1:p.Ser498Leu
ENST00000641074.1:c.*72C>T	ENSP00000493446.1:n.*72C>T
ENST00000641115.1:c.1229C>T	ENSP00000493264.1:p.Ser410Leu
ENST00000641213.1:c.*1146C>T	ENSP00000493079.1:n.*1146C>T
ENST00000641314.1:n.1478C>T
ENST00000641375.1:c.*1329C>T	ENSP00000493089.1:n.*1329C>T
ENST00000641597.1:c.1493C>T	ENSP00000493382.1:p.Ser498Leu
ENST00000641756.1:c.*1237C>T	ENSP00000493147.1:n.*1237C>T
ENST00000641811.1:c.747C>T
ENST00000641891.1:c.*1319C>T	ENSP00000493288.1:n.*1319C>T
ENST00000641927.1:n.1433C>T
ENST00000641947.1:c.1472C>T	ENSP00000492994.1:p.Ser491Leu
ENST00000642021.1:n.2524C>T
ENST00000369407.3:c.1391C>T	ENSP00000358415.3:p.Ser464Leu
ENST00000369409.8:c.1493C>T	ENSP00000358417.4:p.Ser498Leu
ENST00000482968.1:n.1472C>T
NM_006623.3:c.1493C>T	NP_006614.2:p.Ser498Leu
XM_011541226.1:c.1715C>T	XP_011539528.1:p.Ser572Leu
XM_011541227.1:c.1637C>T	XP_011539529.1:p.Ser546Leu
XM_011541228.1:c.1604C>T	XP_011539530.1:p.Ser535Leu
XM_011541229.1:c.1430C>T	XP_011539531.1:p.Ser477Leu
XM_011541230.1:c.1208C>T	XP_011539532.1:p.Ser403Leu
XM_011541231.1:c.1199C>T	XP_011539533.1:p.Ser400Leu
XM_011541226.2:c.1715C>T	XP_011539528.1:p.Ser572Leu
XM_011541227.2:c.1637C>T	XP_011539529.1:p.Ser546Leu
XM_011541228.2:c.1604C>T	XP_011539530.1:p.Ser535Leu
XM_011541231.2:c.1199C>T	XP_011539533.1:p.Ser400Leu
XM_024446338.1:c.1604C>T	XP_024302106.1:p.Ser535Leu
NM_006623.4:c.1493C>T MANE Select	NP_006614.2:p.Ser498Leu