Canonical Allele Identifier: CA420017215

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743932A>T , CM000663.2:g.119743932A>T	GRCh38
NC_000001.10:g.120286555A>T , CM000663.1:g.120286555A>T	GRCh37
NC_000001.9:g.120088078A>T	NCBI36
NG_009188.1:g.37137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1513A>T	ENSP00000358417.5:p.Thr505Ser
ENST00000641023.2:c.1494A>T MANE Select	ENSP00000493175.1:p.Ser498=
ENST00000641074.1:c.*73A>T	ENSP00000493446.1:n.*73A>T
ENST00000641115.1:c.1230A>T	ENSP00000493264.1:p.Ser410=
ENST00000641213.1:c.*1147A>T	ENSP00000493079.1:n.*1147A>T
ENST00000641314.1:n.1479A>T
ENST00000641375.1:c.*1330A>T	ENSP00000493089.1:n.*1330A>T
ENST00000641597.1:c.1494A>T	ENSP00000493382.1:p.Ser498=
ENST00000641756.1:c.*1238A>T	ENSP00000493147.1:n.*1238A>T
ENST00000641811.1:c.748A>T
ENST00000641891.1:c.*1320A>T	ENSP00000493288.1:n.*1320A>T
ENST00000641927.1:n.1434A>T
ENST00000641947.1:c.1473A>T	ENSP00000492994.1:p.Ser491=
ENST00000642021.1:n.2525A>T
ENST00000369407.3:c.1392A>T	ENSP00000358415.3:p.Ser464=
ENST00000369409.8:c.1494A>T	ENSP00000358417.4:p.Ser498=
ENST00000482968.1:n.1473A>T
NM_006623.3:c.1494A>T	NP_006614.2:p.Ser498=
XM_011541226.1:c.1716A>T	XP_011539528.1:p.Ser572=
XM_011541227.1:c.1638A>T	XP_011539529.1:p.Ser546=
XM_011541228.1:c.1605A>T	XP_011539530.1:p.Ser535=
XM_011541229.1:c.1431A>T	XP_011539531.1:p.Ser477=
XM_011541230.1:c.1209A>T	XP_011539532.1:p.Ser403=
XM_011541231.1:c.1200A>T	XP_011539533.1:p.Ser400=
XM_011541226.2:c.1716A>T	XP_011539528.1:p.Ser572=
XM_011541227.2:c.1638A>T	XP_011539529.1:p.Ser546=
XM_011541228.2:c.1605A>T	XP_011539530.1:p.Ser535=
XM_011541231.2:c.1200A>T	XP_011539533.1:p.Ser400=
XM_024446338.1:c.1605A>T	XP_024302106.1:p.Ser535=
NM_006623.4:c.1494A>T MANE Select	NP_006614.2:p.Ser498=