Canonical Allele Identifier: CA341852945

Gene: PHGDH

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119741817G>C , CM000663.2:g.119741817G>C	GRCh38
NC_000001.10:g.120284440G>C , CM000663.1:g.120284440G>C	GRCh37
NC_000001.9:g.120085963G>C	NCBI36
NG_009188.1:g.35022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1129G>C	ENSP00000358417.5:p.Gly377Arg
ENST00000641023.2:c.1129G>C MANE Select	ENSP00000493175.1:p.Gly377Arg
ENST00000641074.1:c.1079-990G>C	ENSP00000493446.1:n.1079-990G>C
ENST00000641115.1:c.946-990G>C	ENSP00000493264.1:n.946-990G>C
ENST00000641213.1:c.*782G>C	ENSP00000493079.1:n.*782G>C
ENST00000641314.1:n.1114G>C
ENST00000641375.1:c.*965G>C	ENSP00000493089.1:n.*965G>C
ENST00000641597.1:c.1129G>C	ENSP00000493382.1:p.Gly377Arg
ENST00000641756.1:c.*873G>C	ENSP00000493147.1:n.*873G>C
ENST00000641811.1:c.702-2069G>C
ENST00000641891.1:c.*955G>C	ENSP00000493288.1:n.*955G>C
ENST00000641927.1:n.1069G>C
ENST00000641939.1:n.232G>C
ENST00000641947.1:c.1129G>C	ENSP00000492994.1:p.Gly377Arg
ENST00000642021.1:n.1251G>C
ENST00000369407.3:c.1027G>C	ENSP00000358415.3:p.Gly343Arg
ENST00000369409.8:c.1129G>C	ENSP00000358417.4:p.Gly377Arg
ENST00000482968.1:n.1108G>C
NM_006623.3:c.1129G>C	NP_006614.2:p.Gly377Arg
XM_011541226.1:c.1351G>C	XP_011539528.1:p.Gly451Arg
XM_011541227.1:c.1273G>C	XP_011539529.1:p.Gly425Arg
XM_011541228.1:c.1240G>C	XP_011539530.1:p.Gly414Arg
XM_011541229.1:c.1066G>C	XP_011539531.1:p.Gly356Arg
XM_011541230.1:c.844G>C	XP_011539532.1:p.Gly282Arg
XM_011541231.1:c.835G>C	XP_011539533.1:p.Gly279Arg
XM_011541226.2:c.1351G>C	XP_011539528.1:p.Gly451Arg
XM_011541227.2:c.1273G>C	XP_011539529.1:p.Gly425Arg
XM_011541228.2:c.1240G>C	XP_011539530.1:p.Gly414Arg
XM_011541231.2:c.835G>C	XP_011539533.1:p.Gly279Arg
XM_024446338.1:c.1240G>C	XP_024302106.1:p.Gly414Arg
NM_006623.4:c.1129G>C MANE Select	NP_006614.2:p.Gly377Arg