Canonical Allele Identifier: CA341851185

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279784C>A (hg19) ; chr1:g.119737161C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737161C>A , CM000663.2:g.119737161C>A	GRCh38
NC_000001.10:g.120279784C>A , CM000663.1:g.120279784C>A	GRCh37
NC_000001.9:g.120081307C>A	NCBI36
NG_009188.1:g.30366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.840C>A	ENSP00000358417.5:p.Ser280Arg
ENST00000641023.2:c.840C>A MANE Select	ENSP00000493175.1:p.Ser280Arg
ENST00000641074.1:c.840C>A	ENSP00000493446.1:p.Ser280Arg
ENST00000641115.1:c.840C>A	ENSP00000493264.1:p.Ser280Arg
ENST00000641213.1:c.*493C>A	ENSP00000493079.1:n.*493C>A
ENST00000641314.1:n.825C>A
ENST00000641375.1:c.*676C>A	ENSP00000493089.1:n.*676C>A
ENST00000641597.1:c.840C>A	ENSP00000493382.1:p.Ser280Arg
ENST00000641756.1:c.*584C>A	ENSP00000493147.1:n.*584C>A
ENST00000641811.1:c.596C>A
ENST00000641891.1:c.*666C>A	ENSP00000493288.1:n.*666C>A
ENST00000641927.1:n.780C>A
ENST00000641947.1:c.840C>A	ENSP00000492994.1:p.Ser280Arg
ENST00000642021.1:n.962C>A
ENST00000369407.3:c.738C>A	ENSP00000358415.3:p.Ser246Arg
ENST00000369409.8:c.840C>A	ENSP00000358417.4:p.Ser280Arg
NM_006623.3:c.840C>A	NP_006614.2:p.Ser280Arg
XM_011541226.1:c.1062C>A	XP_011539528.1:p.Ser354Arg
XM_011541227.1:c.984C>A	XP_011539529.1:p.Ser328Arg
XM_011541228.1:c.951C>A	XP_011539530.1:p.Ser317Arg
XM_011541229.1:c.777C>A	XP_011539531.1:p.Ser259Arg
XM_011541230.1:c.555C>A	XP_011539532.1:p.Ser185Arg
XM_011541231.1:c.546C>A	XP_011539533.1:p.Ser182Arg
XM_011541226.2:c.1062C>A	XP_011539528.1:p.Ser354Arg
XM_011541227.2:c.984C>A	XP_011539529.1:p.Ser328Arg
XM_011541228.2:c.951C>A	XP_011539530.1:p.Ser317Arg
XM_011541231.2:c.546C>A	XP_011539533.1:p.Ser182Arg
XM_024446338.1:c.951C>A	XP_024302106.1:p.Ser317Arg
NM_006623.4:c.840C>A MANE Select	NP_006614.2:p.Ser280Arg