Canonical Allele Identifier: CA1037270

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 752693
• ClinVar RCV Id: RCV000929854
• dbSNP Id: rs587719252
• ExAC: 1:120279748 G / A
• gnomAD v2: 1-120279748-G-A
• gnomAD v3: 1-119737125-G-A
• gnomAD v4: 1-119737125-G-A
• MyVariant Identifiers: chr1:g.120279748G>A (hg19) ; chr1:g.119737125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737125G>A , CM000663.2:g.119737125G>A	GRCh38
NC_000001.10:g.120279748G>A , CM000663.1:g.120279748G>A	GRCh37
NC_000001.9:g.120081271G>A	NCBI36
NG_009188.1:g.30330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.804G>A	ENSP00000358417.5:p.Arg268=
ENST00000469443.2:n.624G>A
ENST00000641023.2:c.804G>A MANE Select	ENSP00000493175.1:p.Arg268=
ENST00000641074.1:c.804G>A	ENSP00000493446.1:p.Arg268=
ENST00000641115.1:c.804G>A	ENSP00000493264.1:p.Arg268=
ENST00000641213.1:c.*457G>A	ENSP00000493079.1:n.*457G>A
ENST00000641314.1:n.789G>A
ENST00000641375.1:c.*640G>A	ENSP00000493089.1:n.*640G>A
ENST00000641597.1:c.804G>A	ENSP00000493382.1:p.Arg268=
ENST00000641756.1:c.*548G>A	ENSP00000493147.1:n.*548G>A
ENST00000641811.1:c.560G>A
ENST00000641891.1:c.*630G>A	ENSP00000493288.1:n.*630G>A
ENST00000641927.1:n.744G>A
ENST00000641947.1:c.804G>A	ENSP00000492994.1:p.Arg268=
ENST00000642021.1:n.926G>A
ENST00000369407.3:c.702G>A	ENSP00000358415.3:p.Arg234=
ENST00000369409.8:c.804G>A	ENSP00000358417.4:p.Arg268=
NM_006623.3:c.804G>A	NP_006614.2:p.Arg268=
XM_011541226.1:c.1026G>A	XP_011539528.1:p.Arg342=
XM_011541227.1:c.948G>A	XP_011539529.1:p.Arg316=
XM_011541228.1:c.915G>A	XP_011539530.1:p.Arg305=
XM_011541229.1:c.741G>A	XP_011539531.1:p.Arg247=
XM_011541230.1:c.519G>A	XP_011539532.1:p.Arg173=
XM_011541231.1:c.510G>A	XP_011539533.1:p.Arg170=
XM_011541226.2:c.1026G>A	XP_011539528.1:p.Arg342=
XM_011541227.2:c.948G>A	XP_011539529.1:p.Arg316=
XM_011541228.2:c.915G>A	XP_011539530.1:p.Arg305=
XM_011541231.2:c.510G>A	XP_011539533.1:p.Arg170=
XM_024446338.1:c.915G>A	XP_024302106.1:p.Arg305=
NM_006623.4:c.804G>A MANE Select	NP_006614.2:p.Arg268=