Canonical Allele Identifier: CA341851155

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737153-G-A
• MyVariant Identifiers: chr1:g.120279776G>A (hg19) ; chr1:g.119737153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737153G>A , CM000663.2:g.119737153G>A	GRCh38
NC_000001.10:g.120279776G>A , CM000663.1:g.120279776G>A	GRCh37
NC_000001.9:g.120081299G>A	NCBI36
NG_009188.1:g.30358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.832G>A	ENSP00000358417.5:p.Val278Ile
ENST00000469443.2:n.652G>A
ENST00000641023.2:c.832G>A MANE Select	ENSP00000493175.1:p.Val278Ile
ENST00000641074.1:c.832G>A	ENSP00000493446.1:p.Val278Ile
ENST00000641115.1:c.832G>A	ENSP00000493264.1:p.Val278Ile
ENST00000641213.1:c.*485G>A	ENSP00000493079.1:n.*485G>A
ENST00000641314.1:n.817G>A
ENST00000641375.1:c.*668G>A	ENSP00000493089.1:n.*668G>A
ENST00000641597.1:c.832G>A	ENSP00000493382.1:p.Val278Ile
ENST00000641756.1:c.*576G>A	ENSP00000493147.1:n.*576G>A
ENST00000641811.1:c.588G>A
ENST00000641891.1:c.*658G>A	ENSP00000493288.1:n.*658G>A
ENST00000641927.1:n.772G>A
ENST00000641947.1:c.832G>A	ENSP00000492994.1:p.Val278Ile
ENST00000642021.1:n.954G>A
ENST00000369407.3:c.730G>A	ENSP00000358415.3:p.Val244Ile
ENST00000369409.8:c.832G>A	ENSP00000358417.4:p.Val278Ile
NM_006623.3:c.832G>A	NP_006614.2:p.Val278Ile
XM_011541226.1:c.1054G>A	XP_011539528.1:p.Val352Ile
XM_011541227.1:c.976G>A	XP_011539529.1:p.Val326Ile
XM_011541228.1:c.943G>A	XP_011539530.1:p.Val315Ile
XM_011541229.1:c.769G>A	XP_011539531.1:p.Val257Ile
XM_011541230.1:c.547G>A	XP_011539532.1:p.Val183Ile
XM_011541231.1:c.538G>A	XP_011539533.1:p.Val180Ile
XM_011541226.2:c.1054G>A	XP_011539528.1:p.Val352Ile
XM_011541227.2:c.976G>A	XP_011539529.1:p.Val326Ile
XM_011541228.2:c.943G>A	XP_011539530.1:p.Val315Ile
XM_011541231.2:c.538G>A	XP_011539533.1:p.Val180Ile
XM_024446338.1:c.943G>A	XP_024302106.1:p.Val315Ile
NM_006623.4:c.832G>A MANE Select	NP_006614.2:p.Val278Ile