Canonical Allele Identifier: CA341851184

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279783G>T (hg19) ; chr1:g.119737160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737160G>T , CM000663.2:g.119737160G>T	GRCh38
NC_000001.10:g.120279783G>T , CM000663.1:g.120279783G>T	GRCh37
NC_000001.9:g.120081306G>T	NCBI36
NG_009188.1:g.30365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.839G>T	ENSP00000358417.5:p.Ser280Ile
ENST00000641023.2:c.839G>T MANE Select	ENSP00000493175.1:p.Ser280Ile
ENST00000641074.1:c.839G>T	ENSP00000493446.1:p.Ser280Ile
ENST00000641115.1:c.839G>T	ENSP00000493264.1:p.Ser280Ile
ENST00000641213.1:c.*492G>T	ENSP00000493079.1:n.*492G>T
ENST00000641314.1:n.824G>T
ENST00000641375.1:c.*675G>T	ENSP00000493089.1:n.*675G>T
ENST00000641597.1:c.839G>T	ENSP00000493382.1:p.Ser280Ile
ENST00000641756.1:c.*583G>T	ENSP00000493147.1:n.*583G>T
ENST00000641811.1:c.595G>T
ENST00000641891.1:c.*665G>T	ENSP00000493288.1:n.*665G>T
ENST00000641927.1:n.779G>T
ENST00000641947.1:c.839G>T	ENSP00000492994.1:p.Ser280Ile
ENST00000642021.1:n.961G>T
ENST00000369407.3:c.737G>T	ENSP00000358415.3:p.Ser246Ile
ENST00000369409.8:c.839G>T	ENSP00000358417.4:p.Ser280Ile
NM_006623.3:c.839G>T	NP_006614.2:p.Ser280Ile
XM_011541226.1:c.1061G>T	XP_011539528.1:p.Ser354Ile
XM_011541227.1:c.983G>T	XP_011539529.1:p.Ser328Ile
XM_011541228.1:c.950G>T	XP_011539530.1:p.Ser317Ile
XM_011541229.1:c.776G>T	XP_011539531.1:p.Ser259Ile
XM_011541230.1:c.554G>T	XP_011539532.1:p.Ser185Ile
XM_011541231.1:c.545G>T	XP_011539533.1:p.Ser182Ile
XM_011541226.2:c.1061G>T	XP_011539528.1:p.Ser354Ile
XM_011541227.2:c.983G>T	XP_011539529.1:p.Ser328Ile
XM_011541228.2:c.950G>T	XP_011539530.1:p.Ser317Ile
XM_011541231.2:c.545G>T	XP_011539533.1:p.Ser182Ile
XM_024446338.1:c.950G>T	XP_024302106.1:p.Ser317Ile
NM_006623.4:c.839G>T MANE Select	NP_006614.2:p.Ser280Ile