Canonical Allele Identifier: CA341847661

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119727005-T-G
• MyVariant Identifiers: chr1:g.120269628T>G (hg19) ; chr1:g.119727005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727005T>G , CM000663.2:g.119727005T>G	GRCh38
NC_000001.10:g.120269628T>G , CM000663.1:g.120269628T>G	GRCh37
NC_000001.9:g.120071151T>G	NCBI36
NG_009188.1:g.20210T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.413T>G	ENSP00000358417.5:p.Phe138Cys
ENST00000462324.2:n.496T>G
ENST00000641023.2:c.413T>G MANE Select	ENSP00000493175.1:p.Phe138Cys
ENST00000641074.1:c.413T>G	ENSP00000493446.1:p.Phe138Cys
ENST00000641115.1:c.413T>G	ENSP00000493264.1:p.Phe138Cys
ENST00000641213.1:c.*66T>G	ENSP00000493079.1:n.*66T>G
ENST00000641247.1:c.*132T>G	ENSP00000492955.1:n.*132T>G
ENST00000641272.1:c.347T>G	ENSP00000493432.1:p.Phe116Cys
ENST00000641314.1:n.398T>G
ENST00000641371.1:c.327T>G	ENSP00000493305.1:p.Val109=
ENST00000641375.1:c.*249T>G	ENSP00000493089.1:n.*249T>G
ENST00000641491.1:c.*66T>G	ENSP00000493187.1:n.*66T>G
ENST00000641570.1:c.*132T>G	ENSP00000493213.1:n.*132T>G
ENST00000641573.1:n.501T>G
ENST00000641587.1:c.*124T>G	ENSP00000493453.1:n.*124T>G
ENST00000641597.1:c.413T>G	ENSP00000493382.1:p.Phe138Cys
ENST00000641711.1:n.637T>G
ENST00000641756.1:c.*157T>G	ENSP00000493147.1:n.*157T>G
ENST00000641811.1:c.169T>G
ENST00000641847.1:n.272T>G
ENST00000641891.1:c.*239T>G	ENSP00000493288.1:n.*239T>G
ENST00000641927.1:n.353T>G
ENST00000641947.1:c.413T>G	ENSP00000492994.1:p.Phe138Cys
ENST00000642021.1:n.535T>G
ENST00000642041.1:c.*452T>G	ENSP00000493415.1:n.*452T>G
ENST00000369407.3:c.311T>G	ENSP00000358415.3:p.Phe104Cys
ENST00000369409.8:c.413T>G	ENSP00000358417.4:p.Phe138Cys
ENST00000462324.1:n.681T>G
ENST00000493622.5:n.602T>G
NM_006623.3:c.413T>G	NP_006614.2:p.Phe138Cys
XM_011541226.1:c.635T>G	XP_011539528.1:p.Phe212Cys
XM_011541227.1:c.557T>G	XP_011539529.1:p.Phe186Cys
XM_011541228.1:c.524T>G	XP_011539530.1:p.Phe175Cys
XM_011541229.1:c.350T>G	XP_011539531.1:p.Phe117Cys
XM_011541230.1:c.128T>G	XP_011539532.1:p.Phe43Cys
XM_011541231.1:c.119T>G	XP_011539533.1:p.Phe40Cys
XM_011541226.2:c.635T>G	XP_011539528.1:p.Phe212Cys
XM_011541227.2:c.557T>G	XP_011539529.1:p.Phe186Cys
XM_011541228.2:c.524T>G	XP_011539530.1:p.Phe175Cys
XM_011541231.2:c.119T>G	XP_011539533.1:p.Phe40Cys
XM_024446338.1:c.524T>G	XP_024302106.1:p.Phe175Cys
NM_006623.4:c.413T>G MANE Select	NP_006614.2:p.Phe138Cys