Canonical Allele Identifier: CA341847624

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269518A>C (hg19) ; chr1:g.119726895A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726895A>C , CM000663.2:g.119726895A>C	GRCh38
NC_000001.10:g.120269518A>C , CM000663.1:g.120269518A>C	GRCh37
NC_000001.9:g.120071041A>C	NCBI36
NG_009188.1:g.20100A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.401A>C	ENSP00000358417.5:p.Glu134Ala
ENST00000462324.2:n.484A>C
ENST00000641023.2:c.401A>C MANE Select	ENSP00000493175.1:p.Glu134Ala
ENST00000641074.1:c.401A>C	ENSP00000493446.1:p.Glu134Ala
ENST00000641115.1:c.401A>C	ENSP00000493264.1:p.Glu134Ala
ENST00000641213.1:c.*54A>C	ENSP00000493079.1:n.*54A>C
ENST00000641247.1:c.*120A>C	ENSP00000492955.1:n.*120A>C
ENST00000641272.1:c.335A>C	ENSP00000493432.1:p.Glu112Ala
ENST00000641314.1:n.386A>C
ENST00000641371.1:c.315A>C	ENSP00000493305.1:p.Gly105=
ENST00000641375.1:c.*237A>C	ENSP00000493089.1:n.*237A>C
ENST00000641491.1:c.*54A>C	ENSP00000493187.1:n.*54A>C
ENST00000641513.1:c.*145A>C	ENSP00000493398.1:n.*145A>C
ENST00000641570.1:c.*120A>C	ENSP00000493213.1:n.*120A>C
ENST00000641573.1:n.489A>C
ENST00000641587.1:c.*112A>C	ENSP00000493453.1:n.*112A>C
ENST00000641597.1:c.401A>C	ENSP00000493382.1:p.Glu134Ala
ENST00000641711.1:n.625A>C
ENST00000641756.1:c.*145A>C	ENSP00000493147.1:n.*145A>C
ENST00000641811.1:c.157A>C
ENST00000641847.1:n.260A>C
ENST00000641891.1:c.*227A>C	ENSP00000493288.1:n.*227A>C
ENST00000641927.1:n.341A>C
ENST00000641947.1:c.401A>C	ENSP00000492994.1:p.Glu134Ala
ENST00000642021.1:n.523A>C
ENST00000642041.1:c.*440A>C	ENSP00000493415.1:n.*440A>C
ENST00000369407.3:c.299A>C	ENSP00000358415.3:p.Glu100Ala
ENST00000369409.8:c.401A>C	ENSP00000358417.4:p.Glu134Ala
ENST00000462324.1:n.669A>C
ENST00000493622.5:n.590A>C
NM_006623.3:c.401A>C	NP_006614.2:p.Glu134Ala
XM_011541226.1:c.623A>C	XP_011539528.1:p.Glu208Ala
XM_011541227.1:c.545A>C	XP_011539529.1:p.Glu182Ala
XM_011541228.1:c.512A>C	XP_011539530.1:p.Glu171Ala
XM_011541229.1:c.338A>C	XP_011539531.1:p.Glu113Ala
XM_011541230.1:c.116A>C	XP_011539532.1:p.Glu39Ala
XM_011541231.1:c.107A>C	XP_011539533.1:p.Glu36Ala
XM_011541226.2:c.623A>C	XP_011539528.1:p.Glu208Ala
XM_011541227.2:c.545A>C	XP_011539529.1:p.Glu182Ala
XM_011541228.2:c.512A>C	XP_011539530.1:p.Glu171Ala
XM_011541231.2:c.107A>C	XP_011539533.1:p.Glu36Ala
XM_024446338.1:c.512A>C	XP_024302106.1:p.Glu171Ala
NM_006623.4:c.401A>C MANE Select	NP_006614.2:p.Glu134Ala