Canonical Allele Identifier: CA1192434136

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737126G= , CM000663.2:g.119737126G=	GRCh38
NC_000001.10:g.120279749G= , CM000663.1:g.120279749G=	GRCh37
NC_000001.9:g.120081272G=	NCBI36
NG_009188.1:g.30331G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.805G=	ENSP00000358417.5:p.Asp269=
ENST00000469443.2:n.625G=
ENST00000641023.2:c.805G= MANE Select	ENSP00000493175.1:p.Asp269=
ENST00000641074.1:c.805G=	ENSP00000493446.1:p.Asp269=
ENST00000641115.1:c.805G=	ENSP00000493264.1:p.Asp269=
ENST00000641213.1:c.*458G=	ENSP00000493079.1:n.*458G=
ENST00000641314.1:n.790G=
ENST00000641375.1:c.*641G=	ENSP00000493089.1:n.*641G=
ENST00000641597.1:c.805G=	ENSP00000493382.1:p.Asp269=
ENST00000641756.1:c.*549G=	ENSP00000493147.1:n.*549G=
ENST00000641811.1:c.561G=
ENST00000641891.1:c.*631G=	ENSP00000493288.1:n.*631G=
ENST00000641927.1:n.745G=
ENST00000641947.1:c.805G=	ENSP00000492994.1:p.Asp269=
ENST00000642021.1:n.927G=
ENST00000369407.3:c.703G=	ENSP00000358415.3:p.Asp235=
ENST00000369409.8:c.805G=	ENSP00000358417.4:p.Asp269=
NM_006623.3:c.805G=	NP_006614.2:p.Asp269=
XM_011541226.1:c.1027G=	XP_011539528.1:p.Asp343=
XM_011541227.1:c.949G=	XP_011539529.1:p.Asp317=
XM_011541228.1:c.916G=	XP_011539530.1:p.Asp306=
XM_011541229.1:c.742G=	XP_011539531.1:p.Asp248=
XM_011541230.1:c.520G=	XP_011539532.1:p.Asp174=
XM_011541231.1:c.511G=	XP_011539533.1:p.Asp171=
XM_011541226.2:c.1027G=	XP_011539528.1:p.Asp343=
XM_011541227.2:c.949G=	XP_011539529.1:p.Asp317=
XM_011541228.2:c.916G=	XP_011539530.1:p.Asp306=
XM_011541231.2:c.511G=	XP_011539533.1:p.Asp171=
XM_024446338.1:c.916G=	XP_024302106.1:p.Asp306=
NM_006623.4:c.805G= MANE Select	NP_006614.2:p.Asp269=