Canonical Allele Identifier: CA341847595

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269505G>T (hg19) ; chr1:g.119726882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726882G>T , CM000663.2:g.119726882G>T	GRCh38
NC_000001.10:g.120269505G>T , CM000663.1:g.120269505G>T	GRCh37
NC_000001.9:g.120071028G>T	NCBI36
NG_009188.1:g.20087G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.388G>T	ENSP00000358417.5:p.Asp130Tyr
ENST00000462324.2:n.471G>T
ENST00000641023.2:c.388G>T MANE Select	ENSP00000493175.1:p.Asp130Tyr
ENST00000641074.1:c.388G>T	ENSP00000493446.1:p.Asp130Tyr
ENST00000641115.1:c.388G>T	ENSP00000493264.1:p.Asp130Tyr
ENST00000641213.1:c.*41G>T	ENSP00000493079.1:n.*41G>T
ENST00000641247.1:c.*107G>T	ENSP00000492955.1:n.*107G>T
ENST00000641272.1:c.322G>T	ENSP00000493432.1:p.Asp108Tyr
ENST00000641314.1:n.373G>T
ENST00000641371.1:c.302G>T	ENSP00000493305.1:p.Gly101Val
ENST00000641375.1:c.*224G>T	ENSP00000493089.1:n.*224G>T
ENST00000641491.1:c.*41G>T	ENSP00000493187.1:n.*41G>T
ENST00000641513.1:c.*132G>T	ENSP00000493398.1:n.*132G>T
ENST00000641570.1:c.*107G>T	ENSP00000493213.1:n.*107G>T
ENST00000641573.1:n.476G>T
ENST00000641587.1:c.*99G>T	ENSP00000493453.1:n.*99G>T
ENST00000641597.1:c.388G>T	ENSP00000493382.1:p.Asp130Tyr
ENST00000641711.1:n.612G>T
ENST00000641756.1:c.*132G>T	ENSP00000493147.1:n.*132G>T
ENST00000641811.1:c.144G>T
ENST00000641847.1:n.247G>T
ENST00000641891.1:c.*214G>T	ENSP00000493288.1:n.*214G>T
ENST00000641927.1:n.328G>T
ENST00000641947.1:c.388G>T	ENSP00000492994.1:p.Asp130Tyr
ENST00000642021.1:n.510G>T
ENST00000642041.1:c.*427G>T	ENSP00000493415.1:n.*427G>T
ENST00000369407.3:c.286G>T	ENSP00000358415.3:p.Asp96Tyr
ENST00000369409.8:c.388G>T	ENSP00000358417.4:p.Asp130Tyr
ENST00000462324.1:n.656G>T
ENST00000493622.5:n.577G>T
NM_006623.3:c.388G>T	NP_006614.2:p.Asp130Tyr
XM_011541226.1:c.610G>T	XP_011539528.1:p.Asp204Tyr
XM_011541227.1:c.532G>T	XP_011539529.1:p.Asp178Tyr
XM_011541228.1:c.499G>T	XP_011539530.1:p.Asp167Tyr
XM_011541229.1:c.325G>T	XP_011539531.1:p.Asp109Tyr
XM_011541230.1:c.103G>T	XP_011539532.1:p.Asp35Tyr
XM_011541231.1:c.94G>T	XP_011539533.1:p.Asp32Tyr
XM_011541226.2:c.610G>T	XP_011539528.1:p.Asp204Tyr
XM_011541227.2:c.532G>T	XP_011539529.1:p.Asp178Tyr
XM_011541228.2:c.499G>T	XP_011539530.1:p.Asp167Tyr
XM_011541231.2:c.94G>T	XP_011539533.1:p.Asp32Tyr
XM_024446338.1:c.499G>T	XP_024302106.1:p.Asp167Tyr
NM_006623.4:c.388G>T MANE Select	NP_006614.2:p.Asp130Tyr