Canonical Allele Identifier: CA341847692

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269643T>A (hg19) ; chr1:g.119727020T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727020T>A , CM000663.2:g.119727020T>A	GRCh38
NC_000001.10:g.120269643T>A , CM000663.1:g.120269643T>A	GRCh37
NC_000001.9:g.120071166T>A	NCBI36
NG_009188.1:g.20225T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.428T>A	ENSP00000358417.5:p.Leu143Gln
ENST00000462324.2:n.511T>A
ENST00000641023.2:c.428T>A MANE Select	ENSP00000493175.1:p.Leu143Gln
ENST00000641074.1:c.428T>A	ENSP00000493446.1:p.Leu143Gln
ENST00000641115.1:c.428T>A	ENSP00000493264.1:p.Leu143Gln
ENST00000641213.1:c.*81T>A	ENSP00000493079.1:n.*81T>A
ENST00000641247.1:c.*147T>A	ENSP00000492955.1:n.*147T>A
ENST00000641272.1:c.362T>A	ENSP00000493432.1:p.Leu121Gln
ENST00000641314.1:n.413T>A
ENST00000641371.1:c.342T>A	ENSP00000493305.1:p.Ala114=
ENST00000641375.1:c.*264T>A	ENSP00000493089.1:n.*264T>A
ENST00000641491.1:c.*81T>A	ENSP00000493187.1:n.*81T>A
ENST00000641570.1:c.*147T>A	ENSP00000493213.1:n.*147T>A
ENST00000641573.1:n.516T>A
ENST00000641587.1:c.*139T>A	ENSP00000493453.1:n.*139T>A
ENST00000641597.1:c.428T>A	ENSP00000493382.1:p.Leu143Gln
ENST00000641711.1:n.652T>A
ENST00000641756.1:c.*172T>A	ENSP00000493147.1:n.*172T>A
ENST00000641811.1:c.184T>A
ENST00000641847.1:n.287T>A
ENST00000641891.1:c.*254T>A	ENSP00000493288.1:n.*254T>A
ENST00000641927.1:n.368T>A
ENST00000641947.1:c.428T>A	ENSP00000492994.1:p.Leu143Gln
ENST00000642021.1:n.550T>A
ENST00000642041.1:c.*467T>A	ENSP00000493415.1:n.*467T>A
ENST00000369407.3:c.326T>A	ENSP00000358415.3:p.Leu109Gln
ENST00000369409.8:c.428T>A	ENSP00000358417.4:p.Leu143Gln
ENST00000462324.1:n.696T>A
ENST00000493622.5:n.617T>A
NM_006623.3:c.428T>A	NP_006614.2:p.Leu143Gln
XM_011541226.1:c.650T>A	XP_011539528.1:p.Leu217Gln
XM_011541227.1:c.572T>A	XP_011539529.1:p.Leu191Gln
XM_011541228.1:c.539T>A	XP_011539530.1:p.Leu180Gln
XM_011541229.1:c.365T>A	XP_011539531.1:p.Leu122Gln
XM_011541230.1:c.143T>A	XP_011539532.1:p.Leu48Gln
XM_011541231.1:c.134T>A	XP_011539533.1:p.Leu45Gln
XM_011541226.2:c.650T>A	XP_011539528.1:p.Leu217Gln
XM_011541227.2:c.572T>A	XP_011539529.1:p.Leu191Gln
XM_011541228.2:c.539T>A	XP_011539530.1:p.Leu180Gln
XM_011541231.2:c.134T>A	XP_011539533.1:p.Leu45Gln
XM_024446338.1:c.539T>A	XP_024302106.1:p.Leu180Gln
NM_006623.4:c.428T>A MANE Select	NP_006614.2:p.Leu143Gln