Canonical Allele Identifier: CA341851239

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737175-G-T
• MyVariant Identifiers: chr1:g.120279798G>T (hg19) ; chr1:g.119737175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737175G>T , CM000663.2:g.119737175G>T	GRCh38
NC_000001.10:g.120279798G>T , CM000663.1:g.120279798G>T	GRCh37
NC_000001.9:g.120081321G>T	NCBI36
NG_009188.1:g.30380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.854G>T	ENSP00000358417.5:p.Gly285Val
ENST00000641023.2:c.854G>T MANE Select	ENSP00000493175.1:p.Gly285Val
ENST00000641074.1:c.854G>T	ENSP00000493446.1:p.Gly285Val
ENST00000641115.1:c.854G>T	ENSP00000493264.1:p.Gly285Val
ENST00000641213.1:c.*507G>T	ENSP00000493079.1:n.*507G>T
ENST00000641314.1:n.839G>T
ENST00000641375.1:c.*690G>T	ENSP00000493089.1:n.*690G>T
ENST00000641597.1:c.854G>T	ENSP00000493382.1:p.Gly285Val
ENST00000641756.1:c.*598G>T	ENSP00000493147.1:n.*598G>T
ENST00000641811.1:c.610G>T
ENST00000641891.1:c.*680G>T	ENSP00000493288.1:n.*680G>T
ENST00000641927.1:n.794G>T
ENST00000641947.1:c.854G>T	ENSP00000492994.1:p.Gly285Val
ENST00000642021.1:n.976G>T
ENST00000369407.3:c.752G>T	ENSP00000358415.3:p.Gly251Val
ENST00000369409.8:c.854G>T	ENSP00000358417.4:p.Gly285Val
NM_006623.3:c.854G>T	NP_006614.2:p.Gly285Val
XM_011541226.1:c.1076G>T	XP_011539528.1:p.Gly359Val
XM_011541227.1:c.998G>T	XP_011539529.1:p.Gly333Val
XM_011541228.1:c.965G>T	XP_011539530.1:p.Gly322Val
XM_011541229.1:c.791G>T	XP_011539531.1:p.Gly264Val
XM_011541230.1:c.569G>T	XP_011539532.1:p.Gly190Val
XM_011541231.1:c.560G>T	XP_011539533.1:p.Gly187Val
XM_011541226.2:c.1076G>T	XP_011539528.1:p.Gly359Val
XM_011541227.2:c.998G>T	XP_011539529.1:p.Gly333Val
XM_011541228.2:c.965G>T	XP_011539530.1:p.Gly322Val
XM_011541231.2:c.560G>T	XP_011539533.1:p.Gly187Val
XM_024446338.1:c.965G>T	XP_024302106.1:p.Gly322Val
NM_006623.4:c.854G>T MANE Select	NP_006614.2:p.Gly285Val