Canonical Allele Identifier: CA420012776

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269647T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727024T>C , CM000663.2:g.119727024T>C	GRCh38
NC_000001.10:g.120269647T>C , CM000663.1:g.120269647T>C	GRCh37
NC_000001.9:g.120071170T>C	NCBI36
NG_009188.1:g.20229T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.432T>C	ENSP00000358417.5:p.Asn144=
ENST00000462324.2:n.515T>C
ENST00000641023.2:c.432T>C MANE Select	ENSP00000493175.1:p.Asn144=
ENST00000641074.1:c.432T>C	ENSP00000493446.1:p.Asn144=
ENST00000641115.1:c.432T>C	ENSP00000493264.1:p.Asn144=
ENST00000641213.1:c.*85T>C	ENSP00000493079.1:n.*85T>C
ENST00000641247.1:c.*151T>C	ENSP00000492955.1:n.*151T>C
ENST00000641272.1:c.366T>C	ENSP00000493432.1:p.Asn122=
ENST00000641314.1:n.417T>C
ENST00000641371.1:c.346T>C	ENSP00000493305.1:p.Trp116Arg
ENST00000641375.1:c.*268T>C	ENSP00000493089.1:n.*268T>C
ENST00000641491.1:c.*85T>C	ENSP00000493187.1:n.*85T>C
ENST00000641570.1:c.*151T>C	ENSP00000493213.1:n.*151T>C
ENST00000641573.1:n.520T>C
ENST00000641587.1:c.*143T>C	ENSP00000493453.1:n.*143T>C
ENST00000641597.1:c.432T>C	ENSP00000493382.1:p.Asn144=
ENST00000641711.1:n.656T>C
ENST00000641756.1:c.*176T>C	ENSP00000493147.1:n.*176T>C
ENST00000641811.1:c.188T>C
ENST00000641847.1:n.291T>C
ENST00000641891.1:c.*258T>C	ENSP00000493288.1:n.*258T>C
ENST00000641927.1:n.372T>C
ENST00000641947.1:c.432T>C	ENSP00000492994.1:p.Asn144=
ENST00000642021.1:n.554T>C
ENST00000642041.1:c.*471T>C	ENSP00000493415.1:n.*471T>C
ENST00000369407.3:c.330T>C	ENSP00000358415.3:p.Asn110=
ENST00000369409.8:c.432T>C	ENSP00000358417.4:p.Asn144=
ENST00000462324.1:n.700T>C
ENST00000493622.5:n.621T>C
NM_006623.3:c.432T>C	NP_006614.2:p.Asn144=
XM_011541226.1:c.654T>C	XP_011539528.1:p.Asn218=
XM_011541227.1:c.576T>C	XP_011539529.1:p.Asn192=
XM_011541228.1:c.543T>C	XP_011539530.1:p.Asn181=
XM_011541229.1:c.369T>C	XP_011539531.1:p.Asn123=
XM_011541230.1:c.147T>C	XP_011539532.1:p.Asn49=
XM_011541231.1:c.138T>C	XP_011539533.1:p.Asn46=
XM_011541226.2:c.654T>C	XP_011539528.1:p.Asn218=
XM_011541227.2:c.576T>C	XP_011539529.1:p.Asn192=
XM_011541228.2:c.543T>C	XP_011539530.1:p.Asn181=
XM_011541231.2:c.138T>C	XP_011539533.1:p.Asn46=
XM_024446338.1:c.543T>C	XP_024302106.1:p.Asn181=
NM_006623.4:c.432T>C MANE Select	NP_006614.2:p.Asn144=