Canonical Allele Identifier: CA1192434168

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743917G= , CM000663.2:g.119743917G=	GRCh38
NC_000001.10:g.120286540G= , CM000663.1:g.120286540G=	GRCh37
NC_000001.9:g.120088063G=	NCBI36
NG_009188.1:g.37122G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1498G=	ENSP00000358417.5:p.Val500=
ENST00000641023.2:c.1479G= MANE Select	ENSP00000493175.1:p.Leu493=
ENST00000641074.1:c.*58G=	ENSP00000493446.1:n.*58G=
ENST00000641115.1:c.1215G=	ENSP00000493264.1:p.Leu405=
ENST00000641213.1:c.*1132G=	ENSP00000493079.1:n.*1132G=
ENST00000641314.1:n.1464G=
ENST00000641375.1:c.*1315G=	ENSP00000493089.1:n.*1315G=
ENST00000641597.1:c.1479G=	ENSP00000493382.1:p.Leu493=
ENST00000641756.1:c.*1223G=	ENSP00000493147.1:n.*1223G=
ENST00000641811.1:c.733G=
ENST00000641891.1:c.*1305G=	ENSP00000493288.1:n.*1305G=
ENST00000641927.1:n.1419G=
ENST00000641947.1:c.1458G=	ENSP00000492994.1:p.Leu486=
ENST00000642021.1:n.2510G=
ENST00000369407.3:c.1377G=	ENSP00000358415.3:p.Leu459=
ENST00000369409.8:c.1479G=	ENSP00000358417.4:p.Leu493=
ENST00000482968.1:n.1458G=
NM_006623.3:c.1479G=	NP_006614.2:p.Leu493=
XM_011541226.1:c.1701G=	XP_011539528.1:p.Leu567=
XM_011541227.1:c.1623G=	XP_011539529.1:p.Leu541=
XM_011541228.1:c.1590G=	XP_011539530.1:p.Leu530=
XM_011541229.1:c.1416G=	XP_011539531.1:p.Leu472=
XM_011541230.1:c.1194G=	XP_011539532.1:p.Leu398=
XM_011541231.1:c.1185G=	XP_011539533.1:p.Leu395=
XM_011541226.2:c.1701G=	XP_011539528.1:p.Leu567=
XM_011541227.2:c.1623G=	XP_011539529.1:p.Leu541=
XM_011541228.2:c.1590G=	XP_011539530.1:p.Leu530=
XM_011541231.2:c.1185G=	XP_011539533.1:p.Leu395=
XM_024446338.1:c.1590G=	XP_024302106.1:p.Leu530=
NM_006623.4:c.1479G= MANE Select	NP_006614.2:p.Leu493=