Canonical Allele Identifier: CA420013692

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120279745A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737122A>T , CM000663.2:g.119737122A>T	GRCh38
NC_000001.10:g.120279745A>T , CM000663.1:g.120279745A>T	GRCh37
NC_000001.9:g.120081268A>T	NCBI36
NG_009188.1:g.30327A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.801A>T	ENSP00000358417.5:p.Pro267=
ENST00000469443.2:n.621A>T
ENST00000641023.2:c.801A>T MANE Select	ENSP00000493175.1:p.Pro267=
ENST00000641074.1:c.801A>T	ENSP00000493446.1:p.Pro267=
ENST00000641115.1:c.801A>T	ENSP00000493264.1:p.Pro267=
ENST00000641213.1:c.*454A>T	ENSP00000493079.1:n.*454A>T
ENST00000641314.1:n.786A>T
ENST00000641375.1:c.*637A>T	ENSP00000493089.1:n.*637A>T
ENST00000641597.1:c.801A>T	ENSP00000493382.1:p.Pro267=
ENST00000641756.1:c.*545A>T	ENSP00000493147.1:n.*545A>T
ENST00000641811.1:c.557A>T
ENST00000641891.1:c.*627A>T	ENSP00000493288.1:n.*627A>T
ENST00000641927.1:n.741A>T
ENST00000641947.1:c.801A>T	ENSP00000492994.1:p.Pro267=
ENST00000642021.1:n.923A>T
ENST00000369407.3:c.699A>T	ENSP00000358415.3:p.Pro233=
ENST00000369409.8:c.801A>T	ENSP00000358417.4:p.Pro267=
NM_006623.3:c.801A>T	NP_006614.2:p.Pro267=
XM_011541226.1:c.1023A>T	XP_011539528.1:p.Pro341=
XM_011541227.1:c.945A>T	XP_011539529.1:p.Pro315=
XM_011541228.1:c.912A>T	XP_011539530.1:p.Pro304=
XM_011541229.1:c.738A>T	XP_011539531.1:p.Pro246=
XM_011541230.1:c.516A>T	XP_011539532.1:p.Pro172=
XM_011541231.1:c.507A>T	XP_011539533.1:p.Pro169=
XM_011541226.2:c.1023A>T	XP_011539528.1:p.Pro341=
XM_011541227.2:c.945A>T	XP_011539529.1:p.Pro315=
XM_011541228.2:c.912A>T	XP_011539530.1:p.Pro304=
XM_011541231.2:c.507A>T	XP_011539533.1:p.Pro169=
XM_024446338.1:c.912A>T	XP_024302106.1:p.Pro304=
NM_006623.4:c.801A>T MANE Select	NP_006614.2:p.Pro267=