Canonical Allele Identifier: CA1037077

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1387091
• ClinVar RCV Id: RCV001905947
• dbSNP Id: rs774423823
• ExAC: 1:120269521 G / A
• gnomAD v2: 1-120269521-G-A
• gnomAD v4: 1-119726898-G-A
• COSMIC: COSM894684
• MyVariant Identifiers: chr1:g.120269521G>A (hg19) ; chr1:g.119726898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726898G>A , CM000663.2:g.119726898G>A	GRCh38
NC_000001.10:g.120269521G>A , CM000663.1:g.120269521G>A	GRCh37
NC_000001.9:g.120071044G>A	NCBI36
NG_009188.1:g.20103G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.404G>A	ENSP00000358417.5:p.Arg135Gln
ENST00000462324.2:n.487G>A
ENST00000641023.2:c.404G>A MANE Select	ENSP00000493175.1:p.Arg135Gln
ENST00000641074.1:c.404G>A	ENSP00000493446.1:p.Arg135Gln
ENST00000641115.1:c.404G>A	ENSP00000493264.1:p.Arg135Gln
ENST00000641213.1:c.*57G>A	ENSP00000493079.1:n.*57G>A
ENST00000641247.1:c.*123G>A	ENSP00000492955.1:n.*123G>A
ENST00000641272.1:c.338G>A	ENSP00000493432.1:p.Arg113Gln
ENST00000641314.1:n.389G>A
ENST00000641371.1:c.318G>A	ENSP00000493305.1:p.Ala106=
ENST00000641375.1:c.*240G>A	ENSP00000493089.1:n.*240G>A
ENST00000641491.1:c.*57G>A	ENSP00000493187.1:n.*57G>A
ENST00000641513.1:c.*148G>A	ENSP00000493398.1:n.*148G>A
ENST00000641570.1:c.*123G>A	ENSP00000493213.1:n.*123G>A
ENST00000641573.1:n.492G>A
ENST00000641587.1:c.*115G>A	ENSP00000493453.1:n.*115G>A
ENST00000641597.1:c.404G>A	ENSP00000493382.1:p.Arg135Gln
ENST00000641711.1:n.628G>A
ENST00000641756.1:c.*148G>A	ENSP00000493147.1:n.*148G>A
ENST00000641811.1:c.160G>A
ENST00000641847.1:n.263G>A
ENST00000641891.1:c.*230G>A	ENSP00000493288.1:n.*230G>A
ENST00000641927.1:n.344G>A
ENST00000641947.1:c.404G>A	ENSP00000492994.1:p.Arg135Gln
ENST00000642021.1:n.526G>A
ENST00000642041.1:c.*443G>A	ENSP00000493415.1:n.*443G>A
ENST00000369407.3:c.302G>A	ENSP00000358415.3:p.Arg101Gln
ENST00000369409.8:c.404G>A	ENSP00000358417.4:p.Arg135Gln
ENST00000462324.1:n.672G>A
ENST00000493622.5:n.593G>A
NM_006623.3:c.404G>A	NP_006614.2:p.Arg135Gln
XM_011541226.1:c.626G>A	XP_011539528.1:p.Arg209Gln
XM_011541227.1:c.548G>A	XP_011539529.1:p.Arg183Gln
XM_011541228.1:c.515G>A	XP_011539530.1:p.Arg172Gln
XM_011541229.1:c.341G>A	XP_011539531.1:p.Arg114Gln
XM_011541230.1:c.119G>A	XP_011539532.1:p.Arg40Gln
XM_011541231.1:c.110G>A	XP_011539533.1:p.Arg37Gln
XM_011541226.2:c.626G>A	XP_011539528.1:p.Arg209Gln
XM_011541227.2:c.548G>A	XP_011539529.1:p.Arg183Gln
XM_011541228.2:c.515G>A	XP_011539530.1:p.Arg172Gln
XM_011541231.2:c.110G>A	XP_011539533.1:p.Arg37Gln
XM_024446338.1:c.515G>A	XP_024302106.1:p.Arg172Gln
NM_006623.4:c.404G>A MANE Select	NP_006614.2:p.Arg135Gln