Canonical Allele Identifier: CA341854328

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743934T>A , CM000663.2:g.119743934T>A	GRCh38
NC_000001.10:g.120286557T>A , CM000663.1:g.120286557T>A	GRCh37
NC_000001.9:g.120088080T>A	NCBI36
NG_009188.1:g.37139T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1515T>A	ENSP00000358417.5:p.Thr505=
ENST00000641023.2:c.1496T>A MANE Select	ENSP00000493175.1:p.Leu499Gln
ENST00000641074.1:c.*75T>A	ENSP00000493446.1:n.*75T>A
ENST00000641115.1:c.1232T>A	ENSP00000493264.1:p.Leu411Gln
ENST00000641213.1:c.*1149T>A	ENSP00000493079.1:n.*1149T>A
ENST00000641314.1:n.1481T>A
ENST00000641375.1:c.*1332T>A	ENSP00000493089.1:n.*1332T>A
ENST00000641597.1:c.1496T>A	ENSP00000493382.1:p.Leu499Gln
ENST00000641756.1:c.*1240T>A	ENSP00000493147.1:n.*1240T>A
ENST00000641811.1:c.750T>A
ENST00000641891.1:c.*1322T>A	ENSP00000493288.1:n.*1322T>A
ENST00000641927.1:n.1436T>A
ENST00000641947.1:c.1475T>A	ENSP00000492994.1:p.Leu492Gln
ENST00000642021.1:n.2527T>A
ENST00000369407.3:c.1394T>A	ENSP00000358415.3:p.Leu465Gln
ENST00000369409.8:c.1496T>A	ENSP00000358417.4:p.Leu499Gln
ENST00000482968.1:n.1475T>A
NM_006623.3:c.1496T>A	NP_006614.2:p.Leu499Gln
XM_011541226.1:c.1718T>A	XP_011539528.1:p.Leu573Gln
XM_011541227.1:c.1640T>A	XP_011539529.1:p.Leu547Gln
XM_011541228.1:c.1607T>A	XP_011539530.1:p.Leu536Gln
XM_011541229.1:c.1433T>A	XP_011539531.1:p.Leu478Gln
XM_011541230.1:c.1211T>A	XP_011539532.1:p.Leu404Gln
XM_011541231.1:c.1202T>A	XP_011539533.1:p.Leu401Gln
XM_011541226.2:c.1718T>A	XP_011539528.1:p.Leu573Gln
XM_011541227.2:c.1640T>A	XP_011539529.1:p.Leu547Gln
XM_011541228.2:c.1607T>A	XP_011539530.1:p.Leu536Gln
XM_011541231.2:c.1202T>A	XP_011539533.1:p.Leu401Gln
XM_024446338.1:c.1607T>A	XP_024302106.1:p.Leu536Gln
NM_006623.4:c.1496T>A MANE Select	NP_006614.2:p.Leu499Gln