Canonical Allele Identifier: CA1037268

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 793056
• ClinVar RCV Id: RCV001488105
• dbSNP Id: rs761104723
• ExAC: 1:120279742 G / A
• gnomAD v2: 1-120279742-G-A
• gnomAD v3: 1-119737119-G-A
• gnomAD v4: 1-119737119-G-A
• MyVariant Identifiers: chr1:g.120279742G>A (hg19) ; chr1:g.119737119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737119G>A , CM000663.2:g.119737119G>A	GRCh38
NC_000001.10:g.120279742G>A , CM000663.1:g.120279742G>A	GRCh37
NC_000001.9:g.120081265G>A	NCBI36
NG_009188.1:g.30324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.798G>A	ENSP00000358417.5:p.Pro266=
ENST00000469443.2:n.618G>A
ENST00000641023.2:c.798G>A MANE Select	ENSP00000493175.1:p.Pro266=
ENST00000641074.1:c.798G>A	ENSP00000493446.1:p.Pro266=
ENST00000641115.1:c.798G>A	ENSP00000493264.1:p.Pro266=
ENST00000641213.1:c.*451G>A	ENSP00000493079.1:n.*451G>A
ENST00000641314.1:n.783G>A
ENST00000641375.1:c.*634G>A	ENSP00000493089.1:n.*634G>A
ENST00000641597.1:c.798G>A	ENSP00000493382.1:p.Pro266=
ENST00000641756.1:c.*542G>A	ENSP00000493147.1:n.*542G>A
ENST00000641811.1:c.554G>A
ENST00000641891.1:c.*624G>A	ENSP00000493288.1:n.*624G>A
ENST00000641927.1:n.738G>A
ENST00000641947.1:c.798G>A	ENSP00000492994.1:p.Pro266=
ENST00000642021.1:n.920G>A
ENST00000369407.3:c.696G>A	ENSP00000358415.3:p.Pro232=
ENST00000369409.8:c.798G>A	ENSP00000358417.4:p.Pro266=
NM_006623.3:c.798G>A	NP_006614.2:p.Pro266=
XM_011541226.1:c.1020G>A	XP_011539528.1:p.Pro340=
XM_011541227.1:c.942G>A	XP_011539529.1:p.Pro314=
XM_011541228.1:c.909G>A	XP_011539530.1:p.Pro303=
XM_011541229.1:c.735G>A	XP_011539531.1:p.Pro245=
XM_011541230.1:c.513G>A	XP_011539532.1:p.Pro171=
XM_011541231.1:c.504G>A	XP_011539533.1:p.Pro168=
XM_011541226.2:c.1020G>A	XP_011539528.1:p.Pro340=
XM_011541227.2:c.942G>A	XP_011539529.1:p.Pro314=
XM_011541228.2:c.909G>A	XP_011539530.1:p.Pro303=
XM_011541231.2:c.504G>A	XP_011539533.1:p.Pro168=
XM_024446338.1:c.909G>A	XP_024302106.1:p.Pro303=
NM_006623.4:c.798G>A MANE Select	NP_006614.2:p.Pro266=