Canonical Allele Identifier: CA341847563

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269490A>C (hg19) ; chr1:g.119726867A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726867A>C , CM000663.2:g.119726867A>C	GRCh38
NC_000001.10:g.120269490A>C , CM000663.1:g.120269490A>C	GRCh37
NC_000001.9:g.120071013A>C	NCBI36
NG_009188.1:g.20072A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.373A>C	ENSP00000358417.5:p.Thr125Pro
ENST00000462324.2:n.456A>C
ENST00000641023.2:c.373A>C MANE Select	ENSP00000493175.1:p.Thr125Pro
ENST00000641074.1:c.373A>C	ENSP00000493446.1:p.Thr125Pro
ENST00000641115.1:c.373A>C	ENSP00000493264.1:p.Thr125Pro
ENST00000641213.1:c.*26A>C	ENSP00000493079.1:n.*26A>C
ENST00000641247.1:c.*92A>C	ENSP00000492955.1:n.*92A>C
ENST00000641272.1:c.307A>C	ENSP00000493432.1:p.Thr103Pro
ENST00000641314.1:n.358A>C
ENST00000641371.1:c.287A>C	ENSP00000493305.1:p.Asp96Ala
ENST00000641375.1:c.*209A>C	ENSP00000493089.1:n.*209A>C
ENST00000641491.1:c.*26A>C	ENSP00000493187.1:n.*26A>C
ENST00000641513.1:c.*117A>C	ENSP00000493398.1:n.*117A>C
ENST00000641570.1:c.*92A>C	ENSP00000493213.1:n.*92A>C
ENST00000641573.1:n.461A>C
ENST00000641587.1:c.*84A>C	ENSP00000493453.1:n.*84A>C
ENST00000641597.1:c.373A>C	ENSP00000493382.1:p.Thr125Pro
ENST00000641711.1:n.597A>C
ENST00000641756.1:c.*117A>C	ENSP00000493147.1:n.*117A>C
ENST00000641811.1:c.129A>C
ENST00000641847.1:n.232A>C
ENST00000641891.1:c.*199A>C	ENSP00000493288.1:n.*199A>C
ENST00000641927.1:n.313A>C
ENST00000641947.1:c.373A>C	ENSP00000492994.1:p.Thr125Pro
ENST00000642021.1:n.495A>C
ENST00000642041.1:c.*412A>C	ENSP00000493415.1:n.*412A>C
ENST00000369407.3:c.271A>C	ENSP00000358415.3:p.Thr91Pro
ENST00000369409.8:c.373A>C	ENSP00000358417.4:p.Thr125Pro
ENST00000462324.1:n.641A>C
ENST00000493622.5:n.562A>C
NM_006623.3:c.373A>C	NP_006614.2:p.Thr125Pro
XM_011541226.1:c.595A>C	XP_011539528.1:p.Thr199Pro
XM_011541227.1:c.517A>C	XP_011539529.1:p.Thr173Pro
XM_011541228.1:c.484A>C	XP_011539530.1:p.Thr162Pro
XM_011541229.1:c.310A>C	XP_011539531.1:p.Thr104Pro
XM_011541230.1:c.88A>C	XP_011539532.1:p.Thr30Pro
XM_011541231.1:c.79A>C	XP_011539533.1:p.Thr27Pro
XM_011541226.2:c.595A>C	XP_011539528.1:p.Thr199Pro
XM_011541227.2:c.517A>C	XP_011539529.1:p.Thr173Pro
XM_011541228.2:c.484A>C	XP_011539530.1:p.Thr162Pro
XM_011541231.2:c.79A>C	XP_011539533.1:p.Thr27Pro
XM_024446338.1:c.484A>C	XP_024302106.1:p.Thr162Pro
NM_006623.4:c.373A>C MANE Select	NP_006614.2:p.Thr125Pro