Canonical Allele Identifier: CA1037273

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 874455
• ClinVar RCV Id: RCV001097408 ; RCV001531010 ; RCV003339478 ; RCV004032023
• dbSNP Id: rs375031910
• ExAC: 1:120279753 G / A
• gnomAD v2: 1-120279753-G-A
• gnomAD v3: 1-119737130-G-A
• gnomAD v4: 1-119737130-G-A
• MyVariant Identifiers: chr1:g.120279753G>A (hg19) ; chr1:g.119737130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737130G>A , CM000663.2:g.119737130G>A	GRCh38
NC_000001.10:g.120279753G>A , CM000663.1:g.120279753G>A	GRCh37
NC_000001.9:g.120081276G>A	NCBI36
NG_009188.1:g.30335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.809G>A	ENSP00000358417.5:p.Arg270Gln
ENST00000469443.2:n.629G>A
ENST00000641023.2:c.809G>A MANE Select	ENSP00000493175.1:p.Arg270Gln
ENST00000641074.1:c.809G>A	ENSP00000493446.1:p.Arg270Gln
ENST00000641115.1:c.809G>A	ENSP00000493264.1:p.Arg270Gln
ENST00000641213.1:c.*462G>A	ENSP00000493079.1:n.*462G>A
ENST00000641314.1:n.794G>A
ENST00000641375.1:c.*645G>A	ENSP00000493089.1:n.*645G>A
ENST00000641597.1:c.809G>A	ENSP00000493382.1:p.Arg270Gln
ENST00000641756.1:c.*553G>A	ENSP00000493147.1:n.*553G>A
ENST00000641811.1:c.565G>A
ENST00000641891.1:c.*635G>A	ENSP00000493288.1:n.*635G>A
ENST00000641927.1:n.749G>A
ENST00000641947.1:c.809G>A	ENSP00000492994.1:p.Arg270Gln
ENST00000642021.1:n.931G>A
ENST00000369407.3:c.707G>A	ENSP00000358415.3:p.Arg236Gln
ENST00000369409.8:c.809G>A	ENSP00000358417.4:p.Arg270Gln
NM_006623.3:c.809G>A	NP_006614.2:p.Arg270Gln
XM_011541226.1:c.1031G>A	XP_011539528.1:p.Arg344Gln
XM_011541227.1:c.953G>A	XP_011539529.1:p.Arg318Gln
XM_011541228.1:c.920G>A	XP_011539530.1:p.Arg307Gln
XM_011541229.1:c.746G>A	XP_011539531.1:p.Arg249Gln
XM_011541230.1:c.524G>A	XP_011539532.1:p.Arg175Gln
XM_011541231.1:c.515G>A	XP_011539533.1:p.Arg172Gln
XM_011541226.2:c.1031G>A	XP_011539528.1:p.Arg344Gln
XM_011541227.2:c.953G>A	XP_011539529.1:p.Arg318Gln
XM_011541228.2:c.920G>A	XP_011539530.1:p.Arg307Gln
XM_011541231.2:c.515G>A	XP_011539533.1:p.Arg172Gln
XM_024446338.1:c.920G>A	XP_024302106.1:p.Arg307Gln
NM_006623.4:c.809G>A MANE Select	NP_006614.2:p.Arg270Gln