Canonical Allele Identifier: CA341847676

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269634G>C (hg19) ; chr1:g.119727011G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727011G>C , CM000663.2:g.119727011G>C	GRCh38
NC_000001.10:g.120269634G>C , CM000663.1:g.120269634G>C	GRCh37
NC_000001.9:g.120071157G>C	NCBI36
NG_009188.1:g.20216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.419G>C	ENSP00000358417.5:p.Gly140Ala
ENST00000462324.2:n.502G>C
ENST00000641023.2:c.419G>C MANE Select	ENSP00000493175.1:p.Gly140Ala
ENST00000641074.1:c.419G>C	ENSP00000493446.1:p.Gly140Ala
ENST00000641115.1:c.419G>C	ENSP00000493264.1:p.Gly140Ala
ENST00000641213.1:c.*72G>C	ENSP00000493079.1:n.*72G>C
ENST00000641247.1:c.*138G>C	ENSP00000492955.1:n.*138G>C
ENST00000641272.1:c.353G>C	ENSP00000493432.1:p.Gly118Ala
ENST00000641314.1:n.404G>C
ENST00000641371.1:c.333G>C	ENSP00000493305.1:p.Gly111=
ENST00000641375.1:c.*255G>C	ENSP00000493089.1:n.*255G>C
ENST00000641491.1:c.*72G>C	ENSP00000493187.1:n.*72G>C
ENST00000641570.1:c.*138G>C	ENSP00000493213.1:n.*138G>C
ENST00000641573.1:n.507G>C
ENST00000641587.1:c.*130G>C	ENSP00000493453.1:n.*130G>C
ENST00000641597.1:c.419G>C	ENSP00000493382.1:p.Gly140Ala
ENST00000641711.1:n.643G>C
ENST00000641756.1:c.*163G>C	ENSP00000493147.1:n.*163G>C
ENST00000641811.1:c.175G>C
ENST00000641847.1:n.278G>C
ENST00000641891.1:c.*245G>C	ENSP00000493288.1:n.*245G>C
ENST00000641927.1:n.359G>C
ENST00000641947.1:c.419G>C	ENSP00000492994.1:p.Gly140Ala
ENST00000642021.1:n.541G>C
ENST00000642041.1:c.*458G>C	ENSP00000493415.1:n.*458G>C
ENST00000369407.3:c.317G>C	ENSP00000358415.3:p.Gly106Ala
ENST00000369409.8:c.419G>C	ENSP00000358417.4:p.Gly140Ala
ENST00000462324.1:n.687G>C
ENST00000493622.5:n.608G>C
NM_006623.3:c.419G>C	NP_006614.2:p.Gly140Ala
XM_011541226.1:c.641G>C	XP_011539528.1:p.Gly214Ala
XM_011541227.1:c.563G>C	XP_011539529.1:p.Gly188Ala
XM_011541228.1:c.530G>C	XP_011539530.1:p.Gly177Ala
XM_011541229.1:c.356G>C	XP_011539531.1:p.Gly119Ala
XM_011541230.1:c.134G>C	XP_011539532.1:p.Gly45Ala
XM_011541231.1:c.125G>C	XP_011539533.1:p.Gly42Ala
XM_011541226.2:c.641G>C	XP_011539528.1:p.Gly214Ala
XM_011541227.2:c.563G>C	XP_011539529.1:p.Gly188Ala
XM_011541228.2:c.530G>C	XP_011539530.1:p.Gly177Ala
XM_011541231.2:c.125G>C	XP_011539533.1:p.Gly42Ala
XM_024446338.1:c.530G>C	XP_024302106.1:p.Gly177Ala
NM_006623.4:c.419G>C MANE Select	NP_006614.2:p.Gly140Ala