Canonical Allele Identifier: CA341847770

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269681A>G (hg19) ; chr1:g.119727058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727058A>G , CM000663.2:g.119727058A>G	GRCh38
NC_000001.10:g.120269681A>G , CM000663.1:g.120269681A>G	GRCh37
NC_000001.9:g.120071204A>G	NCBI36
NG_009188.1:g.20263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.466A>G	ENSP00000358417.5:p.Ile156Val
ENST00000462324.2:n.549A>G
ENST00000641023.2:c.466A>G MANE Select	ENSP00000493175.1:p.Ile156Val
ENST00000641074.1:c.466A>G	ENSP00000493446.1:p.Ile156Val
ENST00000641115.1:c.466A>G	ENSP00000493264.1:p.Ile156Val
ENST00000641213.1:c.*119A>G	ENSP00000493079.1:n.*119A>G
ENST00000641247.1:c.*185A>G	ENSP00000492955.1:n.*185A>G
ENST00000641272.1:c.400A>G	ENSP00000493432.1:p.Ile134Val
ENST00000641314.1:n.451A>G
ENST00000641371.1:c.380A>G	ENSP00000493305.1:p.Asp127Gly
ENST00000641375.1:c.*302A>G	ENSP00000493089.1:n.*302A>G
ENST00000641455.1:n.11A>G
ENST00000641491.1:c.*119A>G	ENSP00000493187.1:n.*119A>G
ENST00000641570.1:c.*185A>G	ENSP00000493213.1:n.*185A>G
ENST00000641573.1:n.554A>G
ENST00000641587.1:c.*177A>G	ENSP00000493453.1:n.*177A>G
ENST00000641597.1:c.466A>G	ENSP00000493382.1:p.Ile156Val
ENST00000641711.1:n.690A>G
ENST00000641756.1:c.*210A>G	ENSP00000493147.1:n.*210A>G
ENST00000641811.1:c.222A>G
ENST00000641847.1:n.325A>G
ENST00000641891.1:c.*292A>G	ENSP00000493288.1:n.*292A>G
ENST00000641927.1:n.406A>G
ENST00000641947.1:c.466A>G	ENSP00000492994.1:p.Ile156Val
ENST00000642021.1:n.588A>G
ENST00000642041.1:c.*505A>G	ENSP00000493415.1:n.*505A>G
ENST00000369407.3:c.364A>G	ENSP00000358415.3:p.Ile122Val
ENST00000369409.8:c.466A>G	ENSP00000358417.4:p.Ile156Val
ENST00000462324.1:n.734A>G
ENST00000493622.5:n.655A>G
NM_006623.3:c.466A>G	NP_006614.2:p.Ile156Val
XM_011541226.1:c.688A>G	XP_011539528.1:p.Ile230Val
XM_011541227.1:c.610A>G	XP_011539529.1:p.Ile204Val
XM_011541228.1:c.577A>G	XP_011539530.1:p.Ile193Val
XM_011541229.1:c.403A>G	XP_011539531.1:p.Ile135Val
XM_011541230.1:c.181A>G	XP_011539532.1:p.Ile61Val
XM_011541231.1:c.172A>G	XP_011539533.1:p.Ile58Val
XM_011541226.2:c.688A>G	XP_011539528.1:p.Ile230Val
XM_011541227.2:c.610A>G	XP_011539529.1:p.Ile204Val
XM_011541228.2:c.577A>G	XP_011539530.1:p.Ile193Val
XM_011541231.2:c.172A>G	XP_011539533.1:p.Ile58Val
XM_024446338.1:c.577A>G	XP_024302106.1:p.Ile193Val
NM_006623.4:c.466A>G MANE Select	NP_006614.2:p.Ile156Val