Canonical Allele Identifier: CA341854251

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743922A>G , CM000663.2:g.119743922A>G	GRCh38
NC_000001.10:g.120286545A>G , CM000663.1:g.120286545A>G	GRCh37
NC_000001.9:g.120088068A>G	NCBI36
NG_009188.1:g.37127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1503A>G	ENSP00000358417.5:p.Leu501=
ENST00000641023.2:c.1484A>G MANE Select	ENSP00000493175.1:p.Tyr495Cys
ENST00000641074.1:c.*63A>G	ENSP00000493446.1:n.*63A>G
ENST00000641115.1:c.1220A>G	ENSP00000493264.1:p.Tyr407Cys
ENST00000641213.1:c.*1137A>G	ENSP00000493079.1:n.*1137A>G
ENST00000641314.1:n.1469A>G
ENST00000641375.1:c.*1320A>G	ENSP00000493089.1:n.*1320A>G
ENST00000641597.1:c.1484A>G	ENSP00000493382.1:p.Tyr495Cys
ENST00000641756.1:c.*1228A>G	ENSP00000493147.1:n.*1228A>G
ENST00000641811.1:c.738A>G
ENST00000641891.1:c.*1310A>G	ENSP00000493288.1:n.*1310A>G
ENST00000641927.1:n.1424A>G
ENST00000641947.1:c.1463A>G	ENSP00000492994.1:p.Tyr488Cys
ENST00000642021.1:n.2515A>G
ENST00000369407.3:c.1382A>G	ENSP00000358415.3:p.Tyr461Cys
ENST00000369409.8:c.1484A>G	ENSP00000358417.4:p.Tyr495Cys
ENST00000482968.1:n.1463A>G
NM_006623.3:c.1484A>G	NP_006614.2:p.Tyr495Cys
XM_011541226.1:c.1706A>G	XP_011539528.1:p.Tyr569Cys
XM_011541227.1:c.1628A>G	XP_011539529.1:p.Tyr543Cys
XM_011541228.1:c.1595A>G	XP_011539530.1:p.Tyr532Cys
XM_011541229.1:c.1421A>G	XP_011539531.1:p.Tyr474Cys
XM_011541230.1:c.1199A>G	XP_011539532.1:p.Tyr400Cys
XM_011541231.1:c.1190A>G	XP_011539533.1:p.Tyr397Cys
XM_011541226.2:c.1706A>G	XP_011539528.1:p.Tyr569Cys
XM_011541227.2:c.1628A>G	XP_011539529.1:p.Tyr543Cys
XM_011541228.2:c.1595A>G	XP_011539530.1:p.Tyr532Cys
XM_011541231.2:c.1190A>G	XP_011539533.1:p.Tyr397Cys
XM_024446338.1:c.1595A>G	XP_024302106.1:p.Tyr532Cys
NM_006623.4:c.1484A>G MANE Select	NP_006614.2:p.Tyr495Cys