Canonical Allele Identifier: CA341847866

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269727T>A (hg19) ; chr1:g.119727104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727104T>A , CM000663.2:g.119727104T>A	GRCh38
NC_000001.10:g.120269727T>A , CM000663.1:g.120269727T>A	GRCh37
NC_000001.9:g.120071250T>A	NCBI36
NG_009188.1:g.20309T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.510+2T>A	ENSP00000358417.5:n.510+2T>A
ENST00000462324.2:n.593+2T>A
ENST00000641023.2:c.510+2T>A MANE Select	ENSP00000493175.1:n.510+2T>A
ENST00000641074.1:c.510+2T>A	ENSP00000493446.1:n.510+2T>A
ENST00000641115.1:c.510+2T>A	ENSP00000493264.1:n.510+2T>A
ENST00000641213.1:c.*163+2T>A	ENSP00000493079.1:n.*163+2T>A
ENST00000641247.1:c.*229+2T>A	ENSP00000492955.1:n.*229+2T>A
ENST00000641272.1:c.444+2T>A	ENSP00000493432.1:n.444+2T>A
ENST00000641314.1:n.495+2T>A
ENST00000641371.1:c.424+2T>A	ENSP00000493305.1:n.424+2T>A
ENST00000641375.1:c.*346+2T>A	ENSP00000493089.1:n.*346+2T>A
ENST00000641455.1:n.55+2T>A
ENST00000641491.1:c.*163+2T>A	ENSP00000493187.1:n.*163+2T>A
ENST00000641570.1:c.*229+2T>A	ENSP00000493213.1:n.*229+2T>A
ENST00000641573.1:n.600T>A
ENST00000641587.1:c.*221+2T>A	ENSP00000493453.1:n.*221+2T>A
ENST00000641597.1:c.510+2T>A	ENSP00000493382.1:n.510+2T>A
ENST00000641756.1:c.*254+2T>A	ENSP00000493147.1:n.*254+2T>A
ENST00000641811.1:c.266+2T>A
ENST00000641847.1:n.371T>A
ENST00000641891.1:c.*336+2T>A	ENSP00000493288.1:n.*336+2T>A
ENST00000641927.1:n.450+2T>A
ENST00000641947.1:c.510+2T>A	ENSP00000492994.1:n.510+2T>A
ENST00000642021.1:n.632+2T>A
ENST00000369407.3:c.408+2T>A	ENSP00000358415.3:n.408+2T>A
ENST00000369409.8:c.510+2T>A	ENSP00000358417.4:n.510+2T>A
ENST00000462324.1:n.778+2T>A
ENST00000493622.5:n.699+2T>A
NM_006623.3:c.510+2T>A	NP_006614.2:n.510+2T>A
XM_011541226.1:c.732+2T>A	XP_011539528.1:n.732+2T>A
XM_011541227.1:c.654+2T>A	XP_011539529.1:n.654+2T>A
XM_011541228.1:c.621+2T>A	XP_011539530.1:n.621+2T>A
XM_011541229.1:c.447+2T>A	XP_011539531.1:n.447+2T>A
XM_011541230.1:c.225+2T>A	XP_011539532.1:n.225+2T>A
XM_011541231.1:c.216+2T>A	XP_011539533.1:n.216+2T>A
XM_011541226.2:c.732+2T>A	XP_011539528.1:n.732+2T>A
XM_011541227.2:c.654+2T>A	XP_011539529.1:n.654+2T>A
XM_011541228.2:c.621+2T>A	XP_011539530.1:n.621+2T>A
XM_011541231.2:c.216+2T>A	XP_011539533.1:n.216+2T>A
XM_024446338.1:c.621+2T>A	XP_024302106.1:n.621+2T>A
NM_006623.4:c.510+2T>A MANE Select	NP_006614.2:n.510+2T>A