Canonical Allele Identifier: CA1192434180

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743933C= , CM000663.2:g.119743933C=	GRCh38
NC_000001.10:g.120286556C= , CM000663.1:g.120286556C=	GRCh37
NC_000001.9:g.120088079C=	NCBI36
NG_009188.1:g.37138C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1514C=	ENSP00000358417.5:p.Thr505=
ENST00000641023.2:c.1495C= MANE Select	ENSP00000493175.1:p.Leu499=
ENST00000641074.1:c.*74C=	ENSP00000493446.1:n.*74C=
ENST00000641115.1:c.1231C=	ENSP00000493264.1:p.Leu411=
ENST00000641213.1:c.*1148C=	ENSP00000493079.1:n.*1148C=
ENST00000641314.1:n.1480C=
ENST00000641375.1:c.*1331C=	ENSP00000493089.1:n.*1331C=
ENST00000641597.1:c.1495C=	ENSP00000493382.1:p.Leu499=
ENST00000641756.1:c.*1239C=	ENSP00000493147.1:n.*1239C=
ENST00000641811.1:c.749C=
ENST00000641891.1:c.*1321C=	ENSP00000493288.1:n.*1321C=
ENST00000641927.1:n.1435C=
ENST00000641947.1:c.1474C=	ENSP00000492994.1:p.Leu492=
ENST00000642021.1:n.2526C=
ENST00000369407.3:c.1393C=	ENSP00000358415.3:p.Leu465=
ENST00000369409.8:c.1495C=	ENSP00000358417.4:p.Leu499=
ENST00000482968.1:n.1474C=
NM_006623.3:c.1495C=	NP_006614.2:p.Leu499=
XM_011541226.1:c.1717C=	XP_011539528.1:p.Leu573=
XM_011541227.1:c.1639C=	XP_011539529.1:p.Leu547=
XM_011541228.1:c.1606C=	XP_011539530.1:p.Leu536=
XM_011541229.1:c.1432C=	XP_011539531.1:p.Leu478=
XM_011541230.1:c.1210C=	XP_011539532.1:p.Leu404=
XM_011541231.1:c.1201C=	XP_011539533.1:p.Leu401=
XM_011541226.2:c.1717C=	XP_011539528.1:p.Leu573=
XM_011541227.2:c.1639C=	XP_011539529.1:p.Leu547=
XM_011541228.2:c.1606C=	XP_011539530.1:p.Leu536=
XM_011541231.2:c.1201C=	XP_011539533.1:p.Leu401=
XM_024446338.1:c.1606C=	XP_024302106.1:p.Leu536=
NM_006623.4:c.1495C= MANE Select	NP_006614.2:p.Leu499=