Canonical Allele Identifier: CA341847847

Gene: PHGDH

Linked Data

• dbSNP Id: rs2101172515
• gnomAD v4: 1-119727095-G-A
• MyVariant Identifiers: chr1:g.120269718G>A (hg19) ; chr1:g.119727095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727095G>A , CM000663.2:g.119727095G>A	GRCh38
NC_000001.10:g.120269718G>A , CM000663.1:g.120269718G>A	GRCh37
NC_000001.9:g.120071241G>A	NCBI36
NG_009188.1:g.20300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.503G>A	ENSP00000358417.5:p.Gly168Glu
ENST00000462324.2:n.586G>A
ENST00000641023.2:c.503G>A MANE Select	ENSP00000493175.1:p.Gly168Glu
ENST00000641074.1:c.503G>A	ENSP00000493446.1:p.Gly168Glu
ENST00000641115.1:c.503G>A	ENSP00000493264.1:p.Gly168Glu
ENST00000641213.1:c.*156G>A	ENSP00000493079.1:n.*156G>A
ENST00000641247.1:c.*222G>A	ENSP00000492955.1:n.*222G>A
ENST00000641272.1:c.437G>A	ENSP00000493432.1:p.Gly146Glu
ENST00000641314.1:n.488G>A
ENST00000641371.1:c.417G>A	ENSP00000493305.1:p.Trp139Ter
ENST00000641375.1:c.*339G>A	ENSP00000493089.1:n.*339G>A
ENST00000641455.1:n.48G>A
ENST00000641491.1:c.*156G>A	ENSP00000493187.1:n.*156G>A
ENST00000641570.1:c.*222G>A	ENSP00000493213.1:n.*222G>A
ENST00000641573.1:n.591G>A
ENST00000641587.1:c.*214G>A	ENSP00000493453.1:n.*214G>A
ENST00000641597.1:c.503G>A	ENSP00000493382.1:p.Gly168Glu
ENST00000641756.1:c.*247G>A	ENSP00000493147.1:n.*247G>A
ENST00000641811.1:c.259G>A
ENST00000641847.1:n.362G>A
ENST00000641891.1:c.*329G>A	ENSP00000493288.1:n.*329G>A
ENST00000641927.1:n.443G>A
ENST00000641947.1:c.503G>A	ENSP00000492994.1:p.Gly168Glu
ENST00000642021.1:n.625G>A
ENST00000369407.3:c.401G>A	ENSP00000358415.3:p.Gly134Glu
ENST00000369409.8:c.503G>A	ENSP00000358417.4:p.Gly168Glu
ENST00000462324.1:n.771G>A
ENST00000493622.5:n.692G>A
NM_006623.3:c.503G>A	NP_006614.2:p.Gly168Glu
XM_011541226.1:c.725G>A	XP_011539528.1:p.Gly242Glu
XM_011541227.1:c.647G>A	XP_011539529.1:p.Gly216Glu
XM_011541228.1:c.614G>A	XP_011539530.1:p.Gly205Glu
XM_011541229.1:c.440G>A	XP_011539531.1:p.Gly147Glu
XM_011541230.1:c.218G>A	XP_011539532.1:p.Gly73Glu
XM_011541231.1:c.209G>A	XP_011539533.1:p.Gly70Glu
XM_011541226.2:c.725G>A	XP_011539528.1:p.Gly242Glu
XM_011541227.2:c.647G>A	XP_011539529.1:p.Gly216Glu
XM_011541228.2:c.614G>A	XP_011539530.1:p.Gly205Glu
XM_011541231.2:c.209G>A	XP_011539533.1:p.Gly70Glu
XM_024446338.1:c.614G>A	XP_024302106.1:p.Gly205Glu
NM_006623.4:c.503G>A MANE Select	NP_006614.2:p.Gly168Glu