Canonical Allele Identifier: CA341851318

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279823C>A (hg19) ; chr1:g.119737200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737200C>A , CM000663.2:g.119737200C>A	GRCh38
NC_000001.10:g.120279823C>A , CM000663.1:g.120279823C>A	GRCh37
NC_000001.9:g.120081346C>A	NCBI36
NG_009188.1:g.30405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.879C>A	ENSP00000358417.5:p.Ser293Arg
ENST00000641023.2:c.879C>A MANE Select	ENSP00000493175.1:p.Ser293Arg
ENST00000641074.1:c.879C>A	ENSP00000493446.1:p.Ser293Arg
ENST00000641115.1:c.879C>A	ENSP00000493264.1:p.Ser293Arg
ENST00000641213.1:c.*532C>A	ENSP00000493079.1:n.*532C>A
ENST00000641314.1:n.864C>A
ENST00000641375.1:c.*715C>A	ENSP00000493089.1:n.*715C>A
ENST00000641597.1:c.879C>A	ENSP00000493382.1:p.Ser293Arg
ENST00000641756.1:c.*623C>A	ENSP00000493147.1:n.*623C>A
ENST00000641811.1:c.635C>A
ENST00000641891.1:c.*705C>A	ENSP00000493288.1:n.*705C>A
ENST00000641927.1:n.819C>A
ENST00000641947.1:c.879C>A	ENSP00000492994.1:p.Ser293Arg
ENST00000642021.1:n.1001C>A
ENST00000369407.3:c.777C>A	ENSP00000358415.3:p.Ser259Arg
ENST00000369409.8:c.879C>A	ENSP00000358417.4:p.Ser293Arg
NM_006623.3:c.879C>A	NP_006614.2:p.Ser293Arg
XM_011541226.1:c.1101C>A	XP_011539528.1:p.Ser367Arg
XM_011541227.1:c.1023C>A	XP_011539529.1:p.Ser341Arg
XM_011541228.1:c.990C>A	XP_011539530.1:p.Ser330Arg
XM_011541229.1:c.816C>A	XP_011539531.1:p.Ser272Arg
XM_011541230.1:c.594C>A	XP_011539532.1:p.Ser198Arg
XM_011541231.1:c.585C>A	XP_011539533.1:p.Ser195Arg
XM_011541226.2:c.1101C>A	XP_011539528.1:p.Ser367Arg
XM_011541227.2:c.1023C>A	XP_011539529.1:p.Ser341Arg
XM_011541228.2:c.990C>A	XP_011539530.1:p.Ser330Arg
XM_011541231.2:c.585C>A	XP_011539533.1:p.Ser195Arg
XM_024446338.1:c.990C>A	XP_024302106.1:p.Ser330Arg
NM_006623.4:c.879C>A MANE Select	NP_006614.2:p.Ser293Arg