Canonical Allele Identifier: CA341847826

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119727086-A-G
• MyVariant Identifiers: chr1:g.120269709A>G (hg19) ; chr1:g.119727086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727086A>G , CM000663.2:g.119727086A>G	GRCh38
NC_000001.10:g.120269709A>G , CM000663.1:g.120269709A>G	GRCh37
NC_000001.9:g.120071232A>G	NCBI36
NG_009188.1:g.20291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.494A>G	ENSP00000358417.5:p.Gln165Arg
ENST00000462324.2:n.577A>G
ENST00000641023.2:c.494A>G MANE Select	ENSP00000493175.1:p.Gln165Arg
ENST00000641074.1:c.494A>G	ENSP00000493446.1:p.Gln165Arg
ENST00000641115.1:c.494A>G	ENSP00000493264.1:p.Gln165Arg
ENST00000641213.1:c.*147A>G	ENSP00000493079.1:n.*147A>G
ENST00000641247.1:c.*213A>G	ENSP00000492955.1:n.*213A>G
ENST00000641272.1:c.428A>G	ENSP00000493432.1:p.Gln143Arg
ENST00000641314.1:n.479A>G
ENST00000641371.1:c.408A>G	ENSP00000493305.1:p.Ala136=
ENST00000641375.1:c.*330A>G	ENSP00000493089.1:n.*330A>G
ENST00000641455.1:n.39A>G
ENST00000641491.1:c.*147A>G	ENSP00000493187.1:n.*147A>G
ENST00000641570.1:c.*213A>G	ENSP00000493213.1:n.*213A>G
ENST00000641573.1:n.582A>G
ENST00000641587.1:c.*205A>G	ENSP00000493453.1:n.*205A>G
ENST00000641597.1:c.494A>G	ENSP00000493382.1:p.Gln165Arg
ENST00000641756.1:c.*238A>G	ENSP00000493147.1:n.*238A>G
ENST00000641811.1:c.250A>G
ENST00000641847.1:n.353A>G
ENST00000641891.1:c.*320A>G	ENSP00000493288.1:n.*320A>G
ENST00000641927.1:n.434A>G
ENST00000641947.1:c.494A>G	ENSP00000492994.1:p.Gln165Arg
ENST00000642021.1:n.616A>G
ENST00000369407.3:c.392A>G	ENSP00000358415.3:p.Gln131Arg
ENST00000369409.8:c.494A>G	ENSP00000358417.4:p.Gln165Arg
ENST00000462324.1:n.762A>G
ENST00000493622.5:n.683A>G
NM_006623.3:c.494A>G	NP_006614.2:p.Gln165Arg
XM_011541226.1:c.716A>G	XP_011539528.1:p.Gln239Arg
XM_011541227.1:c.638A>G	XP_011539529.1:p.Gln213Arg
XM_011541228.1:c.605A>G	XP_011539530.1:p.Gln202Arg
XM_011541229.1:c.431A>G	XP_011539531.1:p.Gln144Arg
XM_011541230.1:c.209A>G	XP_011539532.1:p.Gln70Arg
XM_011541231.1:c.200A>G	XP_011539533.1:p.Gln67Arg
XM_011541226.2:c.716A>G	XP_011539528.1:p.Gln239Arg
XM_011541227.2:c.638A>G	XP_011539529.1:p.Gln213Arg
XM_011541228.2:c.605A>G	XP_011539530.1:p.Gln202Arg
XM_011541231.2:c.200A>G	XP_011539533.1:p.Gln67Arg
XM_024446338.1:c.605A>G	XP_024302106.1:p.Gln202Arg
NM_006623.4:c.494A>G MANE Select	NP_006614.2:p.Gln165Arg