Canonical Allele Identifier: CA341854327

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1514C>A	ENSP00000358417.5:p.Thr505Asn
ENST00000641023.2:c.1495C>A MANE Select	ENSP00000493175.1:p.Leu499Met
ENST00000641074.1:c.*74C>A	ENSP00000493446.1:n.*74C>A
ENST00000641115.1:c.1231C>A	ENSP00000493264.1:p.Leu411Met
ENST00000641213.1:c.*1148C>A	ENSP00000493079.1:n.*1148C>A
ENST00000641314.1:n.1480C>A
ENST00000641375.1:c.*1331C>A	ENSP00000493089.1:n.*1331C>A
ENST00000641597.1:c.1495C>A	ENSP00000493382.1:p.Leu499Met
ENST00000641756.1:c.*1239C>A	ENSP00000493147.1:n.*1239C>A
ENST00000641811.1:c.749C>A
ENST00000641891.1:c.*1321C>A	ENSP00000493288.1:n.*1321C>A
ENST00000641927.1:n.1435C>A
ENST00000641947.1:c.1474C>A	ENSP00000492994.1:p.Leu492Met
ENST00000642021.1:n.2526C>A
ENST00000369407.3:c.1393C>A	ENSP00000358415.3:p.Leu465Met
ENST00000369409.8:c.1495C>A	ENSP00000358417.4:p.Leu499Met
ENST00000482968.1:n.1474C>A
NM_006623.3:c.1495C>A	NP_006614.2:p.Leu499Met
XM_011541226.1:c.1717C>A	XP_011539528.1:p.Leu573Met
XM_011541227.1:c.1639C>A	XP_011539529.1:p.Leu547Met
XM_011541228.1:c.1606C>A	XP_011539530.1:p.Leu536Met
XM_011541229.1:c.1432C>A	XP_011539531.1:p.Leu478Met
XM_011541230.1:c.1210C>A	XP_011539532.1:p.Leu404Met
XM_011541231.1:c.1201C>A	XP_011539533.1:p.Leu401Met
XM_011541226.2:c.1717C>A	XP_011539528.1:p.Leu573Met
XM_011541227.2:c.1639C>A	XP_011539529.1:p.Leu547Met
XM_011541228.2:c.1606C>A	XP_011539530.1:p.Leu536Met
XM_011541231.2:c.1201C>A	XP_011539533.1:p.Leu401Met
XM_024446338.1:c.1606C>A	XP_024302106.1:p.Leu536Met
NM_006623.4:c.1495C>A MANE Select	NP_006614.2:p.Leu499Met