Canonical Allele Identifier: CA341847739

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269665T>G (hg19) ; chr1:g.119727042T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727042T>G , CM000663.2:g.119727042T>G	GRCh38
NC_000001.10:g.120269665T>G , CM000663.1:g.120269665T>G	GRCh37
NC_000001.9:g.120071188T>G	NCBI36
NG_009188.1:g.20247T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.450T>G	ENSP00000358417.5:p.Ile150Met
ENST00000462324.2:n.533T>G
ENST00000641023.2:c.450T>G MANE Select	ENSP00000493175.1:p.Ile150Met
ENST00000641074.1:c.450T>G	ENSP00000493446.1:p.Ile150Met
ENST00000641115.1:c.450T>G	ENSP00000493264.1:p.Ile150Met
ENST00000641213.1:c.*103T>G	ENSP00000493079.1:n.*103T>G
ENST00000641247.1:c.*169T>G	ENSP00000492955.1:n.*169T>G
ENST00000641272.1:c.384T>G	ENSP00000493432.1:p.Ile128Met
ENST00000641314.1:n.435T>G
ENST00000641371.1:c.364T>G	ENSP00000493305.1:p.Ser122Ala
ENST00000641375.1:c.*286T>G	ENSP00000493089.1:n.*286T>G
ENST00000641491.1:c.*103T>G	ENSP00000493187.1:n.*103T>G
ENST00000641570.1:c.*169T>G	ENSP00000493213.1:n.*169T>G
ENST00000641573.1:n.538T>G
ENST00000641587.1:c.*161T>G	ENSP00000493453.1:n.*161T>G
ENST00000641597.1:c.450T>G	ENSP00000493382.1:p.Ile150Met
ENST00000641711.1:n.674T>G
ENST00000641756.1:c.*194T>G	ENSP00000493147.1:n.*194T>G
ENST00000641811.1:c.206T>G
ENST00000641847.1:n.309T>G
ENST00000641891.1:c.*276T>G	ENSP00000493288.1:n.*276T>G
ENST00000641927.1:n.390T>G
ENST00000641947.1:c.450T>G	ENSP00000492994.1:p.Ile150Met
ENST00000642021.1:n.572T>G
ENST00000642041.1:c.*489T>G	ENSP00000493415.1:n.*489T>G
ENST00000369407.3:c.348T>G	ENSP00000358415.3:p.Ile116Met
ENST00000369409.8:c.450T>G	ENSP00000358417.4:p.Ile150Met
ENST00000462324.1:n.718T>G
ENST00000493622.5:n.639T>G
NM_006623.3:c.450T>G	NP_006614.2:p.Ile150Met
XM_011541226.1:c.672T>G	XP_011539528.1:p.Ile224Met
XM_011541227.1:c.594T>G	XP_011539529.1:p.Ile198Met
XM_011541228.1:c.561T>G	XP_011539530.1:p.Ile187Met
XM_011541229.1:c.387T>G	XP_011539531.1:p.Ile129Met
XM_011541230.1:c.165T>G	XP_011539532.1:p.Ile55Met
XM_011541231.1:c.156T>G	XP_011539533.1:p.Ile52Met
XM_011541226.2:c.672T>G	XP_011539528.1:p.Ile224Met
XM_011541227.2:c.594T>G	XP_011539529.1:p.Ile198Met
XM_011541228.2:c.561T>G	XP_011539530.1:p.Ile187Met
XM_011541231.2:c.156T>G	XP_011539533.1:p.Ile52Met
XM_024446338.1:c.561T>G	XP_024302106.1:p.Ile187Met
NM_006623.4:c.450T>G MANE Select	NP_006614.2:p.Ile150Met