Canonical Allele Identifier: CA420012762

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2992512
• ClinVar RCV Id: RCV003855639
• gnomAD v4: 1-119726902-G-A
• MyVariant Identifiers: chr1:g.120269525G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726902G>A , CM000663.2:g.119726902G>A	GRCh38
NC_000001.10:g.120269525G>A , CM000663.1:g.120269525G>A	GRCh37
NC_000001.9:g.120071048G>A	NCBI36
NG_009188.1:g.20107G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.408G>A	ENSP00000358417.5:p.Lys136=
ENST00000462324.2:n.491G>A
ENST00000641023.2:c.408G>A MANE Select	ENSP00000493175.1:p.Lys136=
ENST00000641074.1:c.408G>A	ENSP00000493446.1:p.Lys136=
ENST00000641115.1:c.408G>A	ENSP00000493264.1:p.Lys136=
ENST00000641213.1:c.*61G>A	ENSP00000493079.1:n.*61G>A
ENST00000641247.1:c.*127G>A	ENSP00000492955.1:n.*127G>A
ENST00000641272.1:c.342G>A	ENSP00000493432.1:p.Lys114=
ENST00000641314.1:n.393G>A
ENST00000641371.1:c.322G>A	ENSP00000493305.1:p.Glu108Lys
ENST00000641375.1:c.*244G>A	ENSP00000493089.1:n.*244G>A
ENST00000641491.1:c.*61G>A	ENSP00000493187.1:n.*61G>A
ENST00000641570.1:c.*127G>A	ENSP00000493213.1:n.*127G>A
ENST00000641573.1:n.496G>A
ENST00000641587.1:c.*119G>A	ENSP00000493453.1:n.*119G>A
ENST00000641597.1:c.408G>A	ENSP00000493382.1:p.Lys136=
ENST00000641711.1:n.632G>A
ENST00000641756.1:c.*152G>A	ENSP00000493147.1:n.*152G>A
ENST00000641811.1:c.164G>A
ENST00000641847.1:n.267G>A
ENST00000641891.1:c.*234G>A	ENSP00000493288.1:n.*234G>A
ENST00000641927.1:n.348G>A
ENST00000641947.1:c.408G>A	ENSP00000492994.1:p.Lys136=
ENST00000642021.1:n.530G>A
ENST00000642041.1:c.*447G>A	ENSP00000493415.1:n.*447G>A
ENST00000369407.3:c.306G>A	ENSP00000358415.3:p.Lys102=
ENST00000369409.8:c.408G>A	ENSP00000358417.4:p.Lys136=
ENST00000462324.1:n.676G>A
ENST00000493622.5:n.597G>A
NM_006623.3:c.408G>A	NP_006614.2:p.Lys136=
XM_011541226.1:c.630G>A	XP_011539528.1:p.Lys210=
XM_011541227.1:c.552G>A	XP_011539529.1:p.Lys184=
XM_011541228.1:c.519G>A	XP_011539530.1:p.Lys173=
XM_011541229.1:c.345G>A	XP_011539531.1:p.Lys115=
XM_011541230.1:c.123G>A	XP_011539532.1:p.Lys41=
XM_011541231.1:c.114G>A	XP_011539533.1:p.Lys38=
XM_011541226.2:c.630G>A	XP_011539528.1:p.Lys210=
XM_011541227.2:c.552G>A	XP_011539529.1:p.Lys184=
XM_011541228.2:c.519G>A	XP_011539530.1:p.Lys173=
XM_011541231.2:c.114G>A	XP_011539533.1:p.Lys38=
XM_024446338.1:c.519G>A	XP_024302106.1:p.Lys173=
NM_006623.4:c.408G>A MANE Select	NP_006614.2:p.Lys136=