Canonical Allele Identifier: CA341847707

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269649G>C (hg19) ; chr1:g.119727026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727026G>C , CM000663.2:g.119727026G>C	GRCh38
NC_000001.10:g.120269649G>C , CM000663.1:g.120269649G>C	GRCh37
NC_000001.9:g.120071172G>C	NCBI36
NG_009188.1:g.20231G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.434G>C	ENSP00000358417.5:p.Gly145Ala
ENST00000462324.2:n.517G>C
ENST00000641023.2:c.434G>C MANE Select	ENSP00000493175.1:p.Gly145Ala
ENST00000641074.1:c.434G>C	ENSP00000493446.1:p.Gly145Ala
ENST00000641115.1:c.434G>C	ENSP00000493264.1:p.Gly145Ala
ENST00000641213.1:c.*87G>C	ENSP00000493079.1:n.*87G>C
ENST00000641247.1:c.*153G>C	ENSP00000492955.1:n.*153G>C
ENST00000641272.1:c.368G>C	ENSP00000493432.1:p.Gly123Ala
ENST00000641314.1:n.419G>C
ENST00000641371.1:c.348G>C	ENSP00000493305.1:p.Trp116Cys
ENST00000641375.1:c.*270G>C	ENSP00000493089.1:n.*270G>C
ENST00000641491.1:c.*87G>C	ENSP00000493187.1:n.*87G>C
ENST00000641570.1:c.*153G>C	ENSP00000493213.1:n.*153G>C
ENST00000641573.1:n.522G>C
ENST00000641587.1:c.*145G>C	ENSP00000493453.1:n.*145G>C
ENST00000641597.1:c.434G>C	ENSP00000493382.1:p.Gly145Ala
ENST00000641711.1:n.658G>C
ENST00000641756.1:c.*178G>C	ENSP00000493147.1:n.*178G>C
ENST00000641811.1:c.190G>C
ENST00000641847.1:n.293G>C
ENST00000641891.1:c.*260G>C	ENSP00000493288.1:n.*260G>C
ENST00000641927.1:n.374G>C
ENST00000641947.1:c.434G>C	ENSP00000492994.1:p.Gly145Ala
ENST00000642021.1:n.556G>C
ENST00000642041.1:c.*473G>C	ENSP00000493415.1:n.*473G>C
ENST00000369407.3:c.332G>C	ENSP00000358415.3:p.Gly111Ala
ENST00000369409.8:c.434G>C	ENSP00000358417.4:p.Gly145Ala
ENST00000462324.1:n.702G>C
ENST00000493622.5:n.623G>C
NM_006623.3:c.434G>C	NP_006614.2:p.Gly145Ala
XM_011541226.1:c.656G>C	XP_011539528.1:p.Gly219Ala
XM_011541227.1:c.578G>C	XP_011539529.1:p.Gly193Ala
XM_011541228.1:c.545G>C	XP_011539530.1:p.Gly182Ala
XM_011541229.1:c.371G>C	XP_011539531.1:p.Gly124Ala
XM_011541230.1:c.149G>C	XP_011539532.1:p.Gly50Ala
XM_011541231.1:c.140G>C	XP_011539533.1:p.Gly47Ala
XM_011541226.2:c.656G>C	XP_011539528.1:p.Gly219Ala
XM_011541227.2:c.578G>C	XP_011539529.1:p.Gly193Ala
XM_011541228.2:c.545G>C	XP_011539530.1:p.Gly182Ala
XM_011541231.2:c.140G>C	XP_011539533.1:p.Gly47Ala
XM_024446338.1:c.545G>C	XP_024302106.1:p.Gly182Ala
NM_006623.4:c.434G>C MANE Select	NP_006614.2:p.Gly145Ala