Canonical Allele Identifier: CA341854280

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743925A>T , CM000663.2:g.119743925A>T	GRCh38
NC_000001.10:g.120286548A>T , CM000663.1:g.120286548A>T	GRCh37
NC_000001.9:g.120088071A>T	NCBI36
NG_009188.1:g.37130A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1506A>T	ENSP00000358417.5:p.Pro502=
ENST00000641023.2:c.1487A>T MANE Select	ENSP00000493175.1:p.Gln496Leu
ENST00000641074.1:c.*66A>T	ENSP00000493446.1:n.*66A>T
ENST00000641115.1:c.1223A>T	ENSP00000493264.1:p.Gln408Leu
ENST00000641213.1:c.*1140A>T	ENSP00000493079.1:n.*1140A>T
ENST00000641314.1:n.1472A>T
ENST00000641375.1:c.*1323A>T	ENSP00000493089.1:n.*1323A>T
ENST00000641597.1:c.1487A>T	ENSP00000493382.1:p.Gln496Leu
ENST00000641756.1:c.*1231A>T	ENSP00000493147.1:n.*1231A>T
ENST00000641811.1:c.741A>T
ENST00000641891.1:c.*1313A>T	ENSP00000493288.1:n.*1313A>T
ENST00000641927.1:n.1427A>T
ENST00000641947.1:c.1466A>T	ENSP00000492994.1:p.Gln489Leu
ENST00000642021.1:n.2518A>T
ENST00000369407.3:c.1385A>T	ENSP00000358415.3:p.Gln462Leu
ENST00000369409.8:c.1487A>T	ENSP00000358417.4:p.Gln496Leu
ENST00000482968.1:n.1466A>T
NM_006623.3:c.1487A>T	NP_006614.2:p.Gln496Leu
XM_011541226.1:c.1709A>T	XP_011539528.1:p.Gln570Leu
XM_011541227.1:c.1631A>T	XP_011539529.1:p.Gln544Leu
XM_011541228.1:c.1598A>T	XP_011539530.1:p.Gln533Leu
XM_011541229.1:c.1424A>T	XP_011539531.1:p.Gln475Leu
XM_011541230.1:c.1202A>T	XP_011539532.1:p.Gln401Leu
XM_011541231.1:c.1193A>T	XP_011539533.1:p.Gln398Leu
XM_011541226.2:c.1709A>T	XP_011539528.1:p.Gln570Leu
XM_011541227.2:c.1631A>T	XP_011539529.1:p.Gln544Leu
XM_011541228.2:c.1598A>T	XP_011539530.1:p.Gln533Leu
XM_011541231.2:c.1193A>T	XP_011539533.1:p.Gln398Leu
XM_024446338.1:c.1598A>T	XP_024302106.1:p.Gln533Leu
NM_006623.4:c.1487A>T MANE Select	NP_006614.2:p.Gln496Leu