Canonical Allele Identifier: CA420013994

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279808C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737185C>T , CM000663.2:g.119737185C>T	GRCh38
NC_000001.10:g.120279808C>T , CM000663.1:g.120279808C>T	GRCh37
NC_000001.9:g.120081331C>T	NCBI36
NG_009188.1:g.30390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.864C>T	ENSP00000358417.5:p.Thr288=
ENST00000641023.2:c.864C>T MANE Select	ENSP00000493175.1:p.Thr288=
ENST00000641074.1:c.864C>T	ENSP00000493446.1:p.Thr288=
ENST00000641115.1:c.864C>T	ENSP00000493264.1:p.Thr288=
ENST00000641213.1:c.*517C>T	ENSP00000493079.1:n.*517C>T
ENST00000641314.1:n.849C>T
ENST00000641375.1:c.*700C>T	ENSP00000493089.1:n.*700C>T
ENST00000641597.1:c.864C>T	ENSP00000493382.1:p.Thr288=
ENST00000641756.1:c.*608C>T	ENSP00000493147.1:n.*608C>T
ENST00000641811.1:c.620C>T
ENST00000641891.1:c.*690C>T	ENSP00000493288.1:n.*690C>T
ENST00000641927.1:n.804C>T
ENST00000641947.1:c.864C>T	ENSP00000492994.1:p.Thr288=
ENST00000642021.1:n.986C>T
ENST00000369407.3:c.762C>T	ENSP00000358415.3:p.Thr254=
ENST00000369409.8:c.864C>T	ENSP00000358417.4:p.Thr288=
NM_006623.3:c.864C>T	NP_006614.2:p.Thr288=
XM_011541226.1:c.1086C>T	XP_011539528.1:p.Thr362=
XM_011541227.1:c.1008C>T	XP_011539529.1:p.Thr336=
XM_011541228.1:c.975C>T	XP_011539530.1:p.Thr325=
XM_011541229.1:c.801C>T	XP_011539531.1:p.Thr267=
XM_011541230.1:c.579C>T	XP_011539532.1:p.Thr193=
XM_011541231.1:c.570C>T	XP_011539533.1:p.Thr190=
XM_011541226.2:c.1086C>T	XP_011539528.1:p.Thr362=
XM_011541227.2:c.1008C>T	XP_011539529.1:p.Thr336=
XM_011541228.2:c.975C>T	XP_011539530.1:p.Thr325=
XM_011541231.2:c.570C>T	XP_011539533.1:p.Thr190=
XM_024446338.1:c.975C>T	XP_024302106.1:p.Thr325=
NM_006623.4:c.864C>T MANE Select	NP_006614.2:p.Thr288=