Canonical Allele Identifier: CA420012757

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2998601
• ClinVar RCV Id: RCV003859248
• dbSNP Id: rs1557971747
• gnomAD v3: 1-119726890-A-G
• gnomAD v4: 1-119726890-A-G
• MyVariant Identifiers: chr1:g.120269513A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726890A>G , CM000663.2:g.119726890A>G	GRCh38
NC_000001.10:g.120269513A>G , CM000663.1:g.120269513A>G	GRCh37
NC_000001.9:g.120071036A>G	NCBI36
NG_009188.1:g.20095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.396A>G	ENSP00000358417.5:p.Lys132=
ENST00000462324.2:n.479A>G
ENST00000641023.2:c.396A>G MANE Select	ENSP00000493175.1:p.Lys132=
ENST00000641074.1:c.396A>G	ENSP00000493446.1:p.Lys132=
ENST00000641115.1:c.396A>G	ENSP00000493264.1:p.Lys132=
ENST00000641213.1:c.*49A>G	ENSP00000493079.1:n.*49A>G
ENST00000641247.1:c.*115A>G	ENSP00000492955.1:n.*115A>G
ENST00000641272.1:c.330A>G	ENSP00000493432.1:p.Lys110=
ENST00000641314.1:n.381A>G
ENST00000641371.1:c.310A>G	ENSP00000493305.1:p.Met104Val
ENST00000641375.1:c.*232A>G	ENSP00000493089.1:n.*232A>G
ENST00000641491.1:c.*49A>G	ENSP00000493187.1:n.*49A>G
ENST00000641513.1:c.*140A>G	ENSP00000493398.1:n.*140A>G
ENST00000641570.1:c.*115A>G	ENSP00000493213.1:n.*115A>G
ENST00000641573.1:n.484A>G
ENST00000641587.1:c.*107A>G	ENSP00000493453.1:n.*107A>G
ENST00000641597.1:c.396A>G	ENSP00000493382.1:p.Lys132=
ENST00000641711.1:n.620A>G
ENST00000641756.1:c.*140A>G	ENSP00000493147.1:n.*140A>G
ENST00000641811.1:c.152A>G
ENST00000641847.1:n.255A>G
ENST00000641891.1:c.*222A>G	ENSP00000493288.1:n.*222A>G
ENST00000641927.1:n.336A>G
ENST00000641947.1:c.396A>G	ENSP00000492994.1:p.Lys132=
ENST00000642021.1:n.518A>G
ENST00000642041.1:c.*435A>G	ENSP00000493415.1:n.*435A>G
ENST00000369407.3:c.294A>G	ENSP00000358415.3:p.Lys98=
ENST00000369409.8:c.396A>G	ENSP00000358417.4:p.Lys132=
ENST00000462324.1:n.664A>G
ENST00000493622.5:n.585A>G
NM_006623.3:c.396A>G	NP_006614.2:p.Lys132=
XM_011541226.1:c.618A>G	XP_011539528.1:p.Lys206=
XM_011541227.1:c.540A>G	XP_011539529.1:p.Lys180=
XM_011541228.1:c.507A>G	XP_011539530.1:p.Lys169=
XM_011541229.1:c.333A>G	XP_011539531.1:p.Lys111=
XM_011541230.1:c.111A>G	XP_011539532.1:p.Lys37=
XM_011541231.1:c.102A>G	XP_011539533.1:p.Lys34=
XM_011541226.2:c.618A>G	XP_011539528.1:p.Lys206=
XM_011541227.2:c.540A>G	XP_011539529.1:p.Lys180=
XM_011541228.2:c.507A>G	XP_011539530.1:p.Lys169=
XM_011541231.2:c.102A>G	XP_011539533.1:p.Lys34=
XM_024446338.1:c.507A>G	XP_024302106.1:p.Lys169=
NM_006623.4:c.396A>G MANE Select	NP_006614.2:p.Lys132=