Canonical Allele Identifier: CA341847776

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269684G>T (hg19) ; chr1:g.119727061G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727061G>T , CM000663.2:g.119727061G>T	GRCh38
NC_000001.10:g.120269684G>T , CM000663.1:g.120269684G>T	GRCh37
NC_000001.9:g.120071207G>T	NCBI36
NG_009188.1:g.20266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.469G>T	ENSP00000358417.5:p.Gly157Trp
ENST00000462324.2:n.552G>T
ENST00000641023.2:c.469G>T MANE Select	ENSP00000493175.1:p.Gly157Trp
ENST00000641074.1:c.469G>T	ENSP00000493446.1:p.Gly157Trp
ENST00000641115.1:c.469G>T	ENSP00000493264.1:p.Gly157Trp
ENST00000641213.1:c.*122G>T	ENSP00000493079.1:n.*122G>T
ENST00000641247.1:c.*188G>T	ENSP00000492955.1:n.*188G>T
ENST00000641272.1:c.403G>T	ENSP00000493432.1:p.Gly135Trp
ENST00000641314.1:n.454G>T
ENST00000641371.1:c.383G>T	ENSP00000493305.1:p.Trp128Leu
ENST00000641375.1:c.*305G>T	ENSP00000493089.1:n.*305G>T
ENST00000641455.1:n.14G>T
ENST00000641491.1:c.*122G>T	ENSP00000493187.1:n.*122G>T
ENST00000641570.1:c.*188G>T	ENSP00000493213.1:n.*188G>T
ENST00000641573.1:n.557G>T
ENST00000641587.1:c.*180G>T	ENSP00000493453.1:n.*180G>T
ENST00000641597.1:c.469G>T	ENSP00000493382.1:p.Gly157Trp
ENST00000641711.1:n.693G>T
ENST00000641756.1:c.*213G>T	ENSP00000493147.1:n.*213G>T
ENST00000641811.1:c.225G>T
ENST00000641847.1:n.328G>T
ENST00000641891.1:c.*295G>T	ENSP00000493288.1:n.*295G>T
ENST00000641927.1:n.409G>T
ENST00000641947.1:c.469G>T	ENSP00000492994.1:p.Gly157Trp
ENST00000642021.1:n.591G>T
ENST00000642041.1:c.*508G>T	ENSP00000493415.1:n.*508G>T
ENST00000369407.3:c.367G>T	ENSP00000358415.3:p.Gly123Trp
ENST00000369409.8:c.469G>T	ENSP00000358417.4:p.Gly157Trp
ENST00000462324.1:n.737G>T
ENST00000493622.5:n.658G>T
NM_006623.3:c.469G>T	NP_006614.2:p.Gly157Trp
XM_011541226.1:c.691G>T	XP_011539528.1:p.Gly231Trp
XM_011541227.1:c.613G>T	XP_011539529.1:p.Gly205Trp
XM_011541228.1:c.580G>T	XP_011539530.1:p.Gly194Trp
XM_011541229.1:c.406G>T	XP_011539531.1:p.Gly136Trp
XM_011541230.1:c.184G>T	XP_011539532.1:p.Gly62Trp
XM_011541231.1:c.175G>T	XP_011539533.1:p.Gly59Trp
XM_011541226.2:c.691G>T	XP_011539528.1:p.Gly231Trp
XM_011541227.2:c.613G>T	XP_011539529.1:p.Gly205Trp
XM_011541228.2:c.580G>T	XP_011539530.1:p.Gly194Trp
XM_011541231.2:c.175G>T	XP_011539533.1:p.Gly59Trp
XM_024446338.1:c.580G>T	XP_024302106.1:p.Gly194Trp
NM_006623.4:c.469G>T MANE Select	NP_006614.2:p.Gly157Trp