Canonical Allele Identifier: CA341847657

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269627T>A (hg19) ; chr1:g.119727004T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727004T>A , CM000663.2:g.119727004T>A	GRCh38
NC_000001.10:g.120269627T>A , CM000663.1:g.120269627T>A	GRCh37
NC_000001.9:g.120071150T>A	NCBI36
NG_009188.1:g.20209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.412T>A	ENSP00000358417.5:p.Phe138Ile
ENST00000462324.2:n.495T>A
ENST00000641023.2:c.412T>A MANE Select	ENSP00000493175.1:p.Phe138Ile
ENST00000641074.1:c.412T>A	ENSP00000493446.1:p.Phe138Ile
ENST00000641115.1:c.412T>A	ENSP00000493264.1:p.Phe138Ile
ENST00000641213.1:c.*65T>A	ENSP00000493079.1:n.*65T>A
ENST00000641247.1:c.*131T>A	ENSP00000492955.1:n.*131T>A
ENST00000641272.1:c.346T>A	ENSP00000493432.1:p.Phe116Ile
ENST00000641314.1:n.397T>A
ENST00000641371.1:c.326T>A	ENSP00000493305.1:p.Val109Asp
ENST00000641375.1:c.*248T>A	ENSP00000493089.1:n.*248T>A
ENST00000641491.1:c.*65T>A	ENSP00000493187.1:n.*65T>A
ENST00000641570.1:c.*131T>A	ENSP00000493213.1:n.*131T>A
ENST00000641573.1:n.500T>A
ENST00000641587.1:c.*123T>A	ENSP00000493453.1:n.*123T>A
ENST00000641597.1:c.412T>A	ENSP00000493382.1:p.Phe138Ile
ENST00000641711.1:n.636T>A
ENST00000641756.1:c.*156T>A	ENSP00000493147.1:n.*156T>A
ENST00000641811.1:c.168T>A
ENST00000641847.1:n.271T>A
ENST00000641891.1:c.*238T>A	ENSP00000493288.1:n.*238T>A
ENST00000641927.1:n.352T>A
ENST00000641947.1:c.412T>A	ENSP00000492994.1:p.Phe138Ile
ENST00000642021.1:n.534T>A
ENST00000642041.1:c.*451T>A	ENSP00000493415.1:n.*451T>A
ENST00000369407.3:c.310T>A	ENSP00000358415.3:p.Phe104Ile
ENST00000369409.8:c.412T>A	ENSP00000358417.4:p.Phe138Ile
ENST00000462324.1:n.680T>A
ENST00000493622.5:n.601T>A
NM_006623.3:c.412T>A	NP_006614.2:p.Phe138Ile
XM_011541226.1:c.634T>A	XP_011539528.1:p.Phe212Ile
XM_011541227.1:c.556T>A	XP_011539529.1:p.Phe186Ile
XM_011541228.1:c.523T>A	XP_011539530.1:p.Phe175Ile
XM_011541229.1:c.349T>A	XP_011539531.1:p.Phe117Ile
XM_011541230.1:c.127T>A	XP_011539532.1:p.Phe43Ile
XM_011541231.1:c.118T>A	XP_011539533.1:p.Phe40Ile
XM_011541226.2:c.634T>A	XP_011539528.1:p.Phe212Ile
XM_011541227.2:c.556T>A	XP_011539529.1:p.Phe186Ile
XM_011541228.2:c.523T>A	XP_011539530.1:p.Phe175Ile
XM_011541231.2:c.118T>A	XP_011539533.1:p.Phe40Ile
XM_024446338.1:c.523T>A	XP_024302106.1:p.Phe175Ile
NM_006623.4:c.412T>A MANE Select	NP_006614.2:p.Phe138Ile