Canonical Allele Identifier: CA420013965

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279799T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737176T>G , CM000663.2:g.119737176T>G	GRCh38
NC_000001.10:g.120279799T>G , CM000663.1:g.120279799T>G	GRCh37
NC_000001.9:g.120081322T>G	NCBI36
NG_009188.1:g.30381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.855T>G	ENSP00000358417.5:p.Gly285=
ENST00000641023.2:c.855T>G MANE Select	ENSP00000493175.1:p.Gly285=
ENST00000641074.1:c.855T>G	ENSP00000493446.1:p.Gly285=
ENST00000641115.1:c.855T>G	ENSP00000493264.1:p.Gly285=
ENST00000641213.1:c.*508T>G	ENSP00000493079.1:n.*508T>G
ENST00000641314.1:n.840T>G
ENST00000641375.1:c.*691T>G	ENSP00000493089.1:n.*691T>G
ENST00000641597.1:c.855T>G	ENSP00000493382.1:p.Gly285=
ENST00000641756.1:c.*599T>G	ENSP00000493147.1:n.*599T>G
ENST00000641811.1:c.611T>G
ENST00000641891.1:c.*681T>G	ENSP00000493288.1:n.*681T>G
ENST00000641927.1:n.795T>G
ENST00000641947.1:c.855T>G	ENSP00000492994.1:p.Gly285=
ENST00000642021.1:n.977T>G
ENST00000369407.3:c.753T>G	ENSP00000358415.3:p.Gly251=
ENST00000369409.8:c.855T>G	ENSP00000358417.4:p.Gly285=
NM_006623.3:c.855T>G	NP_006614.2:p.Gly285=
XM_011541226.1:c.1077T>G	XP_011539528.1:p.Gly359=
XM_011541227.1:c.999T>G	XP_011539529.1:p.Gly333=
XM_011541228.1:c.966T>G	XP_011539530.1:p.Gly322=
XM_011541229.1:c.792T>G	XP_011539531.1:p.Gly264=
XM_011541230.1:c.570T>G	XP_011539532.1:p.Gly190=
XM_011541231.1:c.561T>G	XP_011539533.1:p.Gly187=
XM_011541226.2:c.1077T>G	XP_011539528.1:p.Gly359=
XM_011541227.2:c.999T>G	XP_011539529.1:p.Gly333=
XM_011541228.2:c.966T>G	XP_011539530.1:p.Gly322=
XM_011541231.2:c.561T>G	XP_011539533.1:p.Gly187=
XM_024446338.1:c.966T>G	XP_024302106.1:p.Gly322=
NM_006623.4:c.855T>G MANE Select	NP_006614.2:p.Gly285=