Canonical Allele Identifier: CA341847627

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269519G>T (hg19) ; chr1:g.119726896G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726896G>T , CM000663.2:g.119726896G>T	GRCh38
NC_000001.10:g.120269519G>T , CM000663.1:g.120269519G>T	GRCh37
NC_000001.9:g.120071042G>T	NCBI36
NG_009188.1:g.20101G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.402G>T	ENSP00000358417.5:p.Glu134Asp
ENST00000462324.2:n.485G>T
ENST00000641023.2:c.402G>T MANE Select	ENSP00000493175.1:p.Glu134Asp
ENST00000641074.1:c.402G>T	ENSP00000493446.1:p.Glu134Asp
ENST00000641115.1:c.402G>T	ENSP00000493264.1:p.Glu134Asp
ENST00000641213.1:c.*55G>T	ENSP00000493079.1:n.*55G>T
ENST00000641247.1:c.*121G>T	ENSP00000492955.1:n.*121G>T
ENST00000641272.1:c.336G>T	ENSP00000493432.1:p.Glu112Asp
ENST00000641314.1:n.387G>T
ENST00000641371.1:c.316G>T	ENSP00000493305.1:p.Ala106Ser
ENST00000641375.1:c.*238G>T	ENSP00000493089.1:n.*238G>T
ENST00000641491.1:c.*55G>T	ENSP00000493187.1:n.*55G>T
ENST00000641513.1:c.*146G>T	ENSP00000493398.1:n.*146G>T
ENST00000641570.1:c.*121G>T	ENSP00000493213.1:n.*121G>T
ENST00000641573.1:n.490G>T
ENST00000641587.1:c.*113G>T	ENSP00000493453.1:n.*113G>T
ENST00000641597.1:c.402G>T	ENSP00000493382.1:p.Glu134Asp
ENST00000641711.1:n.626G>T
ENST00000641756.1:c.*146G>T	ENSP00000493147.1:n.*146G>T
ENST00000641811.1:c.158G>T
ENST00000641847.1:n.261G>T
ENST00000641891.1:c.*228G>T	ENSP00000493288.1:n.*228G>T
ENST00000641927.1:n.342G>T
ENST00000641947.1:c.402G>T	ENSP00000492994.1:p.Glu134Asp
ENST00000642021.1:n.524G>T
ENST00000642041.1:c.*441G>T	ENSP00000493415.1:n.*441G>T
ENST00000369407.3:c.300G>T	ENSP00000358415.3:p.Glu100Asp
ENST00000369409.8:c.402G>T	ENSP00000358417.4:p.Glu134Asp
ENST00000462324.1:n.670G>T
ENST00000493622.5:n.591G>T
NM_006623.3:c.402G>T	NP_006614.2:p.Glu134Asp
XM_011541226.1:c.624G>T	XP_011539528.1:p.Glu208Asp
XM_011541227.1:c.546G>T	XP_011539529.1:p.Glu182Asp
XM_011541228.1:c.513G>T	XP_011539530.1:p.Glu171Asp
XM_011541229.1:c.339G>T	XP_011539531.1:p.Glu113Asp
XM_011541230.1:c.117G>T	XP_011539532.1:p.Glu39Asp
XM_011541231.1:c.108G>T	XP_011539533.1:p.Glu36Asp
XM_011541226.2:c.624G>T	XP_011539528.1:p.Glu208Asp
XM_011541227.2:c.546G>T	XP_011539529.1:p.Glu182Asp
XM_011541228.2:c.513G>T	XP_011539530.1:p.Glu171Asp
XM_011541231.2:c.108G>T	XP_011539533.1:p.Glu36Asp
XM_024446338.1:c.513G>T	XP_024302106.1:p.Glu171Asp
NM_006623.4:c.402G>T MANE Select	NP_006614.2:p.Glu134Asp