Canonical Allele Identifier: CA420012772

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1908391
• ClinVar RCV Id: RCV002584167
• dbSNP Id: rs2101172055
• gnomAD v4: 1-119727018-G-A
• MyVariant Identifiers: chr1:g.120269641G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727018G>A , CM000663.2:g.119727018G>A	GRCh38
NC_000001.10:g.120269641G>A , CM000663.1:g.120269641G>A	GRCh37
NC_000001.9:g.120071164G>A	NCBI36
NG_009188.1:g.20223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.426G>A	ENSP00000358417.5:p.Glu142=
ENST00000462324.2:n.509G>A
ENST00000641023.2:c.426G>A MANE Select	ENSP00000493175.1:p.Glu142=
ENST00000641074.1:c.426G>A	ENSP00000493446.1:p.Glu142=
ENST00000641115.1:c.426G>A	ENSP00000493264.1:p.Glu142=
ENST00000641213.1:c.*79G>A	ENSP00000493079.1:n.*79G>A
ENST00000641247.1:c.*145G>A	ENSP00000492955.1:n.*145G>A
ENST00000641272.1:c.360G>A	ENSP00000493432.1:p.Glu120=
ENST00000641314.1:n.411G>A
ENST00000641371.1:c.340G>A	ENSP00000493305.1:p.Ala114Thr
ENST00000641375.1:c.*262G>A	ENSP00000493089.1:n.*262G>A
ENST00000641491.1:c.*79G>A	ENSP00000493187.1:n.*79G>A
ENST00000641570.1:c.*145G>A	ENSP00000493213.1:n.*145G>A
ENST00000641573.1:n.514G>A
ENST00000641587.1:c.*137G>A	ENSP00000493453.1:n.*137G>A
ENST00000641597.1:c.426G>A	ENSP00000493382.1:p.Glu142=
ENST00000641711.1:n.650G>A
ENST00000641756.1:c.*170G>A	ENSP00000493147.1:n.*170G>A
ENST00000641811.1:c.182G>A
ENST00000641847.1:n.285G>A
ENST00000641891.1:c.*252G>A	ENSP00000493288.1:n.*252G>A
ENST00000641927.1:n.366G>A
ENST00000641947.1:c.426G>A	ENSP00000492994.1:p.Glu142=
ENST00000642021.1:n.548G>A
ENST00000642041.1:c.*465G>A	ENSP00000493415.1:n.*465G>A
ENST00000369407.3:c.324G>A	ENSP00000358415.3:p.Glu108=
ENST00000369409.8:c.426G>A	ENSP00000358417.4:p.Glu142=
ENST00000462324.1:n.694G>A
ENST00000493622.5:n.615G>A
NM_006623.3:c.426G>A	NP_006614.2:p.Glu142=
XM_011541226.1:c.648G>A	XP_011539528.1:p.Glu216=
XM_011541227.1:c.570G>A	XP_011539529.1:p.Glu190=
XM_011541228.1:c.537G>A	XP_011539530.1:p.Glu179=
XM_011541229.1:c.363G>A	XP_011539531.1:p.Glu121=
XM_011541230.1:c.141G>A	XP_011539532.1:p.Glu47=
XM_011541231.1:c.132G>A	XP_011539533.1:p.Glu44=
XM_011541226.2:c.648G>A	XP_011539528.1:p.Glu216=
XM_011541227.2:c.570G>A	XP_011539529.1:p.Glu190=
XM_011541228.2:c.537G>A	XP_011539530.1:p.Glu179=
XM_011541231.2:c.132G>A	XP_011539533.1:p.Glu44=
XM_024446338.1:c.537G>A	XP_024302106.1:p.Glu179=
NM_006623.4:c.426G>A MANE Select	NP_006614.2:p.Glu142=