Canonical Allele Identifier: CA341854262

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743923C>A , CM000663.2:g.119743923C>A	GRCh38
NC_000001.10:g.120286546C>A , CM000663.1:g.120286546C>A	GRCh37
NC_000001.9:g.120088069C>A	NCBI36
NG_009188.1:g.37128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1504C>A	ENSP00000358417.5:p.Pro502Thr
ENST00000641023.2:c.1485C>A MANE Select	ENSP00000493175.1:p.Tyr495Ter
ENST00000641074.1:c.*64C>A	ENSP00000493446.1:n.*64C>A
ENST00000641115.1:c.1221C>A	ENSP00000493264.1:p.Tyr407Ter
ENST00000641213.1:c.*1138C>A	ENSP00000493079.1:n.*1138C>A
ENST00000641314.1:n.1470C>A
ENST00000641375.1:c.*1321C>A	ENSP00000493089.1:n.*1321C>A
ENST00000641597.1:c.1485C>A	ENSP00000493382.1:p.Tyr495Ter
ENST00000641756.1:c.*1229C>A	ENSP00000493147.1:n.*1229C>A
ENST00000641811.1:c.739C>A
ENST00000641891.1:c.*1311C>A	ENSP00000493288.1:n.*1311C>A
ENST00000641927.1:n.1425C>A
ENST00000641947.1:c.1464C>A	ENSP00000492994.1:p.Tyr488Ter
ENST00000642021.1:n.2516C>A
ENST00000369407.3:c.1383C>A	ENSP00000358415.3:p.Tyr461Ter
ENST00000369409.8:c.1485C>A	ENSP00000358417.4:p.Tyr495Ter
ENST00000482968.1:n.1464C>A
NM_006623.3:c.1485C>A	NP_006614.2:p.Tyr495Ter
XM_011541226.1:c.1707C>A	XP_011539528.1:p.Tyr569Ter
XM_011541227.1:c.1629C>A	XP_011539529.1:p.Tyr543Ter
XM_011541228.1:c.1596C>A	XP_011539530.1:p.Tyr532Ter
XM_011541229.1:c.1422C>A	XP_011539531.1:p.Tyr474Ter
XM_011541230.1:c.1200C>A	XP_011539532.1:p.Tyr400Ter
XM_011541231.1:c.1191C>A	XP_011539533.1:p.Tyr397Ter
XM_011541226.2:c.1707C>A	XP_011539528.1:p.Tyr569Ter
XM_011541227.2:c.1629C>A	XP_011539529.1:p.Tyr543Ter
XM_011541228.2:c.1596C>A	XP_011539530.1:p.Tyr532Ter
XM_011541231.2:c.1191C>A	XP_011539533.1:p.Tyr397Ter
XM_024446338.1:c.1596C>A	XP_024302106.1:p.Tyr532Ter
NM_006623.4:c.1485C>A MANE Select	NP_006614.2:p.Tyr495Ter