Canonical Allele Identifier: CA420014006

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 1656387
• ClinVar RCV Id: RCV002161747
• dbSNP Id: rs1355536303
• gnomAD v2: 1-120279814-G-A
• gnomAD v4: 1-119737191-G-A
• MyVariant Identifiers: chr1:g.120279814G>A (hg19) ; chr1:g.119737191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737191G>A , CM000663.2:g.119737191G>A	GRCh38
NC_000001.10:g.120279814G>A , CM000663.1:g.120279814G>A	GRCh37
NC_000001.9:g.120081337G>A	NCBI36
NG_009188.1:g.30396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.870G>A	ENSP00000358417.5:p.Glu290=
ENST00000641023.2:c.870G>A MANE Select	ENSP00000493175.1:p.Glu290=
ENST00000641074.1:c.870G>A	ENSP00000493446.1:p.Glu290=
ENST00000641115.1:c.870G>A	ENSP00000493264.1:p.Glu290=
ENST00000641213.1:c.*523G>A	ENSP00000493079.1:n.*523G>A
ENST00000641314.1:n.855G>A
ENST00000641375.1:c.*706G>A	ENSP00000493089.1:n.*706G>A
ENST00000641597.1:c.870G>A	ENSP00000493382.1:p.Glu290=
ENST00000641756.1:c.*614G>A	ENSP00000493147.1:n.*614G>A
ENST00000641811.1:c.626G>A
ENST00000641891.1:c.*696G>A	ENSP00000493288.1:n.*696G>A
ENST00000641927.1:n.810G>A
ENST00000641947.1:c.870G>A	ENSP00000492994.1:p.Glu290=
ENST00000642021.1:n.992G>A
ENST00000369407.3:c.768G>A	ENSP00000358415.3:p.Glu256=
ENST00000369409.8:c.870G>A	ENSP00000358417.4:p.Glu290=
NM_006623.3:c.870G>A	NP_006614.2:p.Glu290=
XM_011541226.1:c.1092G>A	XP_011539528.1:p.Glu364=
XM_011541227.1:c.1014G>A	XP_011539529.1:p.Glu338=
XM_011541228.1:c.981G>A	XP_011539530.1:p.Glu327=
XM_011541229.1:c.807G>A	XP_011539531.1:p.Glu269=
XM_011541230.1:c.585G>A	XP_011539532.1:p.Glu195=
XM_011541231.1:c.576G>A	XP_011539533.1:p.Glu192=
XM_011541226.2:c.1092G>A	XP_011539528.1:p.Glu364=
XM_011541227.2:c.1014G>A	XP_011539529.1:p.Glu338=
XM_011541228.2:c.981G>A	XP_011539530.1:p.Glu327=
XM_011541231.2:c.576G>A	XP_011539533.1:p.Glu192=
XM_024446338.1:c.981G>A	XP_024302106.1:p.Glu327=
NM_006623.4:c.870G>A MANE Select	NP_006614.2:p.Glu290=