Canonical Allele Identifier: CA420012750

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1935383
• ClinVar RCV Id: RCV002638998
• dbSNP Id: rs886045205
• gnomAD v4: 1-119726875-G-T
• MyVariant Identifiers: chr1:g.120269498G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726875G>T , CM000663.2:g.119726875G>T	GRCh38
NC_000001.10:g.120269498G>T , CM000663.1:g.120269498G>T	GRCh37
NC_000001.9:g.120071021G>T	NCBI36
NG_009188.1:g.20080G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.381G>T	ENSP00000358417.5:p.Ser127=
ENST00000462324.2:n.464G>T
ENST00000641023.2:c.381G>T MANE Select	ENSP00000493175.1:p.Ser127=
ENST00000641074.1:c.381G>T	ENSP00000493446.1:p.Ser127=
ENST00000641115.1:c.381G>T	ENSP00000493264.1:p.Ser127=
ENST00000641213.1:c.*34G>T	ENSP00000493079.1:n.*34G>T
ENST00000641247.1:c.*100G>T	ENSP00000492955.1:n.*100G>T
ENST00000641272.1:c.315G>T	ENSP00000493432.1:p.Ser105=
ENST00000641314.1:n.366G>T
ENST00000641371.1:c.295G>T	ENSP00000493305.1:p.Asp99Tyr
ENST00000641375.1:c.*217G>T	ENSP00000493089.1:n.*217G>T
ENST00000641491.1:c.*34G>T	ENSP00000493187.1:n.*34G>T
ENST00000641513.1:c.*125G>T	ENSP00000493398.1:n.*125G>T
ENST00000641570.1:c.*100G>T	ENSP00000493213.1:n.*100G>T
ENST00000641573.1:n.469G>T
ENST00000641587.1:c.*92G>T	ENSP00000493453.1:n.*92G>T
ENST00000641597.1:c.381G>T	ENSP00000493382.1:p.Ser127=
ENST00000641711.1:n.605G>T
ENST00000641756.1:c.*125G>T	ENSP00000493147.1:n.*125G>T
ENST00000641811.1:c.137G>T
ENST00000641847.1:n.240G>T
ENST00000641891.1:c.*207G>T	ENSP00000493288.1:n.*207G>T
ENST00000641927.1:n.321G>T
ENST00000641947.1:c.381G>T	ENSP00000492994.1:p.Ser127=
ENST00000642021.1:n.503G>T
ENST00000642041.1:c.*420G>T	ENSP00000493415.1:n.*420G>T
ENST00000369407.3:c.279G>T	ENSP00000358415.3:p.Ser93=
ENST00000369409.8:c.381G>T	ENSP00000358417.4:p.Ser127=
ENST00000462324.1:n.649G>T
ENST00000493622.5:n.570G>T
NM_006623.3:c.381G>T	NP_006614.2:p.Ser127=
XM_011541226.1:c.603G>T	XP_011539528.1:p.Ser201=
XM_011541227.1:c.525G>T	XP_011539529.1:p.Ser175=
XM_011541228.1:c.492G>T	XP_011539530.1:p.Ser164=
XM_011541229.1:c.318G>T	XP_011539531.1:p.Ser106=
XM_011541230.1:c.96G>T	XP_011539532.1:p.Ser32=
XM_011541231.1:c.87G>T	XP_011539533.1:p.Ser29=
XM_011541226.2:c.603G>T	XP_011539528.1:p.Ser201=
XM_011541227.2:c.525G>T	XP_011539529.1:p.Ser175=
XM_011541228.2:c.492G>T	XP_011539530.1:p.Ser164=
XM_011541231.2:c.87G>T	XP_011539533.1:p.Ser29=
XM_024446338.1:c.492G>T	XP_024302106.1:p.Ser164=
NM_006623.4:c.381G>T MANE Select	NP_006614.2:p.Ser127=