Canonical Allele Identifier: CA341847682

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119727014-C-G
• MyVariant Identifiers: chr1:g.120269637C>G (hg19) ; chr1:g.119727014C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727014C>G , CM000663.2:g.119727014C>G	GRCh38
NC_000001.10:g.120269637C>G , CM000663.1:g.120269637C>G	GRCh37
NC_000001.9:g.120071160C>G	NCBI36
NG_009188.1:g.20219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.422C>G	ENSP00000358417.5:p.Thr141Arg
ENST00000462324.2:n.505C>G
ENST00000641023.2:c.422C>G MANE Select	ENSP00000493175.1:p.Thr141Arg
ENST00000641074.1:c.422C>G	ENSP00000493446.1:p.Thr141Arg
ENST00000641115.1:c.422C>G	ENSP00000493264.1:p.Thr141Arg
ENST00000641213.1:c.*75C>G	ENSP00000493079.1:n.*75C>G
ENST00000641247.1:c.*141C>G	ENSP00000492955.1:n.*141C>G
ENST00000641272.1:c.356C>G	ENSP00000493432.1:p.Thr119Arg
ENST00000641314.1:n.407C>G
ENST00000641371.1:c.336C>G	ENSP00000493305.1:p.Asn112Lys
ENST00000641375.1:c.*258C>G	ENSP00000493089.1:n.*258C>G
ENST00000641491.1:c.*75C>G	ENSP00000493187.1:n.*75C>G
ENST00000641570.1:c.*141C>G	ENSP00000493213.1:n.*141C>G
ENST00000641573.1:n.510C>G
ENST00000641587.1:c.*133C>G	ENSP00000493453.1:n.*133C>G
ENST00000641597.1:c.422C>G	ENSP00000493382.1:p.Thr141Arg
ENST00000641711.1:n.646C>G
ENST00000641756.1:c.*166C>G	ENSP00000493147.1:n.*166C>G
ENST00000641811.1:c.178C>G
ENST00000641847.1:n.281C>G
ENST00000641891.1:c.*248C>G	ENSP00000493288.1:n.*248C>G
ENST00000641927.1:n.362C>G
ENST00000641947.1:c.422C>G	ENSP00000492994.1:p.Thr141Arg
ENST00000642021.1:n.544C>G
ENST00000642041.1:c.*461C>G	ENSP00000493415.1:n.*461C>G
ENST00000369407.3:c.320C>G	ENSP00000358415.3:p.Thr107Arg
ENST00000369409.8:c.422C>G	ENSP00000358417.4:p.Thr141Arg
ENST00000462324.1:n.690C>G
ENST00000493622.5:n.611C>G
NM_006623.3:c.422C>G	NP_006614.2:p.Thr141Arg
XM_011541226.1:c.644C>G	XP_011539528.1:p.Thr215Arg
XM_011541227.1:c.566C>G	XP_011539529.1:p.Thr189Arg
XM_011541228.1:c.533C>G	XP_011539530.1:p.Thr178Arg
XM_011541229.1:c.359C>G	XP_011539531.1:p.Thr120Arg
XM_011541230.1:c.137C>G	XP_011539532.1:p.Thr46Arg
XM_011541231.1:c.128C>G	XP_011539533.1:p.Thr43Arg
XM_011541226.2:c.644C>G	XP_011539528.1:p.Thr215Arg
XM_011541227.2:c.566C>G	XP_011539529.1:p.Thr189Arg
XM_011541228.2:c.533C>G	XP_011539530.1:p.Thr178Arg
XM_011541231.2:c.128C>G	XP_011539533.1:p.Thr43Arg
XM_024446338.1:c.533C>G	XP_024302106.1:p.Thr178Arg
NM_006623.4:c.422C>G MANE Select	NP_006614.2:p.Thr141Arg