Canonical Allele Identifier: CA341847743

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269667T>A (hg19) ; chr1:g.119727044T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727044T>A , CM000663.2:g.119727044T>A	GRCh38
NC_000001.10:g.120269667T>A , CM000663.1:g.120269667T>A	GRCh37
NC_000001.9:g.120071190T>A	NCBI36
NG_009188.1:g.20249T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.452T>A	ENSP00000358417.5:p.Leu151His
ENST00000462324.2:n.535T>A
ENST00000641023.2:c.452T>A MANE Select	ENSP00000493175.1:p.Leu151His
ENST00000641074.1:c.452T>A	ENSP00000493446.1:p.Leu151His
ENST00000641115.1:c.452T>A	ENSP00000493264.1:p.Leu151His
ENST00000641213.1:c.*105T>A	ENSP00000493079.1:n.*105T>A
ENST00000641247.1:c.*171T>A	ENSP00000492955.1:n.*171T>A
ENST00000641272.1:c.386T>A	ENSP00000493432.1:p.Leu129His
ENST00000641314.1:n.437T>A
ENST00000641371.1:c.366T>A	ENSP00000493305.1:p.Ser122=
ENST00000641375.1:c.*288T>A	ENSP00000493089.1:n.*288T>A
ENST00000641491.1:c.*105T>A	ENSP00000493187.1:n.*105T>A
ENST00000641570.1:c.*171T>A	ENSP00000493213.1:n.*171T>A
ENST00000641573.1:n.540T>A
ENST00000641587.1:c.*163T>A	ENSP00000493453.1:n.*163T>A
ENST00000641597.1:c.452T>A	ENSP00000493382.1:p.Leu151His
ENST00000641711.1:n.676T>A
ENST00000641756.1:c.*196T>A	ENSP00000493147.1:n.*196T>A
ENST00000641811.1:c.208T>A
ENST00000641847.1:n.311T>A
ENST00000641891.1:c.*278T>A	ENSP00000493288.1:n.*278T>A
ENST00000641927.1:n.392T>A
ENST00000641947.1:c.452T>A	ENSP00000492994.1:p.Leu151His
ENST00000642021.1:n.574T>A
ENST00000642041.1:c.*491T>A	ENSP00000493415.1:n.*491T>A
ENST00000369407.3:c.350T>A	ENSP00000358415.3:p.Leu117His
ENST00000369409.8:c.452T>A	ENSP00000358417.4:p.Leu151His
ENST00000462324.1:n.720T>A
ENST00000493622.5:n.641T>A
NM_006623.3:c.452T>A	NP_006614.2:p.Leu151His
XM_011541226.1:c.674T>A	XP_011539528.1:p.Leu225His
XM_011541227.1:c.596T>A	XP_011539529.1:p.Leu199His
XM_011541228.1:c.563T>A	XP_011539530.1:p.Leu188His
XM_011541229.1:c.389T>A	XP_011539531.1:p.Leu130His
XM_011541230.1:c.167T>A	XP_011539532.1:p.Leu56His
XM_011541231.1:c.158T>A	XP_011539533.1:p.Leu53His
XM_011541226.2:c.674T>A	XP_011539528.1:p.Leu225His
XM_011541227.2:c.596T>A	XP_011539529.1:p.Leu199His
XM_011541228.2:c.563T>A	XP_011539530.1:p.Leu188His
XM_011541231.2:c.158T>A	XP_011539533.1:p.Leu53His
XM_024446338.1:c.563T>A	XP_024302106.1:p.Leu188His
NM_006623.4:c.452T>A MANE Select	NP_006614.2:p.Leu151His