Canonical Allele Identifier: CA1037078

Gene: PHGDH

Linked Data

• dbSNP Id: rs759549424
• ExAC: 1:120269527 A / G
• gnomAD v2: 1-120269527-A-G
• gnomAD v4: 1-119726904-A-G
• MyVariant Identifiers: chr1:g.120269527A>G (hg19) ; chr1:g.119726904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726904A>G , CM000663.2:g.119726904A>G	GRCh38
NC_000001.10:g.120269527A>G , CM000663.1:g.120269527A>G	GRCh37
NC_000001.9:g.120071050A>G	NCBI36
NG_009188.1:g.20109A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.410A>G	ENSP00000358417.5:p.Lys137Arg
ENST00000462324.2:n.493A>G
ENST00000641023.2:c.410A>G MANE Select	ENSP00000493175.1:p.Lys137Arg
ENST00000641074.1:c.410A>G	ENSP00000493446.1:p.Lys137Arg
ENST00000641115.1:c.410A>G	ENSP00000493264.1:p.Lys137Arg
ENST00000641213.1:c.*63A>G	ENSP00000493079.1:n.*63A>G
ENST00000641247.1:c.*129A>G	ENSP00000492955.1:n.*129A>G
ENST00000641272.1:c.344A>G	ENSP00000493432.1:p.Lys115Arg
ENST00000641314.1:n.395A>G
ENST00000641371.1:c.324A>G	ENSP00000493305.1:p.Glu108=
ENST00000641375.1:c.*246A>G	ENSP00000493089.1:n.*246A>G
ENST00000641491.1:c.*63A>G	ENSP00000493187.1:n.*63A>G
ENST00000641570.1:c.*129A>G	ENSP00000493213.1:n.*129A>G
ENST00000641573.1:n.498A>G
ENST00000641587.1:c.*121A>G	ENSP00000493453.1:n.*121A>G
ENST00000641597.1:c.410A>G	ENSP00000493382.1:p.Lys137Arg
ENST00000641711.1:n.634A>G
ENST00000641756.1:c.*154A>G	ENSP00000493147.1:n.*154A>G
ENST00000641811.1:c.166A>G
ENST00000641847.1:n.269A>G
ENST00000641891.1:c.*236A>G	ENSP00000493288.1:n.*236A>G
ENST00000641927.1:n.350A>G
ENST00000641947.1:c.410A>G	ENSP00000492994.1:p.Lys137Arg
ENST00000642021.1:n.532A>G
ENST00000642041.1:c.*449A>G	ENSP00000493415.1:n.*449A>G
ENST00000369407.3:c.308A>G	ENSP00000358415.3:p.Lys103Arg
ENST00000369409.8:c.410A>G	ENSP00000358417.4:p.Lys137Arg
ENST00000462324.1:n.678A>G
ENST00000493622.5:n.599A>G
NM_006623.3:c.410A>G	NP_006614.2:p.Lys137Arg
XM_011541226.1:c.632A>G	XP_011539528.1:p.Lys211Arg
XM_011541227.1:c.554A>G	XP_011539529.1:p.Lys185Arg
XM_011541228.1:c.521A>G	XP_011539530.1:p.Lys174Arg
XM_011541229.1:c.347A>G	XP_011539531.1:p.Lys116Arg
XM_011541230.1:c.125A>G	XP_011539532.1:p.Lys42Arg
XM_011541231.1:c.116A>G	XP_011539533.1:p.Lys39Arg
XM_011541226.2:c.632A>G	XP_011539528.1:p.Lys211Arg
XM_011541227.2:c.554A>G	XP_011539529.1:p.Lys185Arg
XM_011541228.2:c.521A>G	XP_011539530.1:p.Lys174Arg
XM_011541231.2:c.116A>G	XP_011539533.1:p.Lys39Arg
XM_024446338.1:c.521A>G	XP_024302106.1:p.Lys174Arg
NM_006623.4:c.410A>G MANE Select	NP_006614.2:p.Lys137Arg