Canonical Allele Identifier: CA2573130995

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1674843
• ClinVar RCV Id: RCV002208561
• dbSNP Id: rs187075075
• gnomAD v4: 1-119726914-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726914C>A , CM000663.2:g.119726914C>A	GRCh38
NC_000001.10:g.120269537C>A , CM000663.1:g.120269537C>A	GRCh37
NC_000001.9:g.120071060C>A	NCBI36
NG_009188.1:g.20119C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.411+9C>A	ENSP00000358417.5:n.411+9C>A
ENST00000462324.2:n.494+9C>A
ENST00000641023.2:c.411+9C>A MANE Select	ENSP00000493175.1:n.411+9C>A
ENST00000641074.1:c.411+9C>A	ENSP00000493446.1:n.411+9C>A
ENST00000641115.1:c.411+9C>A	ENSP00000493264.1:n.411+9C>A
ENST00000641213.1:c.*64+9C>A	ENSP00000493079.1:n.*64+9C>A
ENST00000641247.1:c.*130+9C>A	ENSP00000492955.1:n.*130+9C>A
ENST00000641272.1:c.345+9C>A	ENSP00000493432.1:n.345+9C>A
ENST00000641314.1:n.396+9C>A
ENST00000641371.1:c.325+9C>A	ENSP00000493305.1:n.325+9C>A
ENST00000641375.1:c.*247+9C>A	ENSP00000493089.1:n.*247+9C>A
ENST00000641491.1:c.*64+9C>A	ENSP00000493187.1:n.*64+9C>A
ENST00000641570.1:c.*130+9C>A	ENSP00000493213.1:n.*130+9C>A
ENST00000641573.1:n.499+9C>A
ENST00000641587.1:c.*122+9C>A	ENSP00000493453.1:n.*122+9C>A
ENST00000641597.1:c.411+9C>A	ENSP00000493382.1:n.411+9C>A
ENST00000641711.1:n.635+9C>A
ENST00000641756.1:c.*155+9C>A	ENSP00000493147.1:n.*155+9C>A
ENST00000641811.1:c.167+9C>A
ENST00000641847.1:n.270+9C>A
ENST00000641891.1:c.*237+9C>A	ENSP00000493288.1:n.*237+9C>A
ENST00000641927.1:n.351+9C>A
ENST00000641947.1:c.411+9C>A	ENSP00000492994.1:n.411+9C>A
ENST00000642021.1:n.533+9C>A
ENST00000642041.1:c.*450+9C>A	ENSP00000493415.1:n.*450+9C>A
ENST00000369407.3:c.309+9C>A	ENSP00000358415.3:n.309+9C>A
ENST00000369409.8:c.411+9C>A	ENSP00000358417.4:n.411+9C>A
ENST00000462324.1:n.679+9C>A
ENST00000493622.5:n.600+9C>A
NM_006623.3:c.411+9C>A	NP_006614.2:n.411+9C>A
XM_011541226.1:c.633+9C>A	XP_011539528.1:n.633+9C>A
XM_011541227.1:c.555+9C>A	XP_011539529.1:n.555+9C>A
XM_011541228.1:c.522+9C>A	XP_011539530.1:n.522+9C>A
XM_011541229.1:c.348+9C>A	XP_011539531.1:n.348+9C>A
XM_011541230.1:c.126+9C>A	XP_011539532.1:n.126+9C>A
XM_011541231.1:c.117+9C>A	XP_011539533.1:n.117+9C>A
XM_011541226.2:c.633+9C>A	XP_011539528.1:n.633+9C>A
XM_011541227.2:c.555+9C>A	XP_011539529.1:n.555+9C>A
XM_011541228.2:c.522+9C>A	XP_011539530.1:n.522+9C>A
XM_011541231.2:c.117+9C>A	XP_011539533.1:n.117+9C>A
XM_024446338.1:c.522+9C>A	XP_024302106.1:n.522+9C>A
NM_006623.4:c.411+9C>A MANE Select	NP_006614.2:n.411+9C>A