Canonical Allele Identifier: CA341854248

Gene: PHGDH

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1503A>C	ENSP00000358417.5:p.Leu501=
ENST00000641023.2:c.1484A>C MANE Select	ENSP00000493175.1:p.Tyr495Ser
ENST00000641074.1:c.*63A>C	ENSP00000493446.1:n.*63A>C
ENST00000641115.1:c.1220A>C	ENSP00000493264.1:p.Tyr407Ser
ENST00000641213.1:c.*1137A>C	ENSP00000493079.1:n.*1137A>C
ENST00000641314.1:n.1469A>C
ENST00000641375.1:c.*1320A>C	ENSP00000493089.1:n.*1320A>C
ENST00000641597.1:c.1484A>C	ENSP00000493382.1:p.Tyr495Ser
ENST00000641756.1:c.*1228A>C	ENSP00000493147.1:n.*1228A>C
ENST00000641811.1:c.738A>C
ENST00000641891.1:c.*1310A>C	ENSP00000493288.1:n.*1310A>C
ENST00000641927.1:n.1424A>C
ENST00000641947.1:c.1463A>C	ENSP00000492994.1:p.Tyr488Ser
ENST00000642021.1:n.2515A>C
ENST00000369407.3:c.1382A>C	ENSP00000358415.3:p.Tyr461Ser
ENST00000369409.8:c.1484A>C	ENSP00000358417.4:p.Tyr495Ser
ENST00000482968.1:n.1463A>C
NM_006623.3:c.1484A>C	NP_006614.2:p.Tyr495Ser
XM_011541226.1:c.1706A>C	XP_011539528.1:p.Tyr569Ser
XM_011541227.1:c.1628A>C	XP_011539529.1:p.Tyr543Ser
XM_011541228.1:c.1595A>C	XP_011539530.1:p.Tyr532Ser
XM_011541229.1:c.1421A>C	XP_011539531.1:p.Tyr474Ser
XM_011541230.1:c.1199A>C	XP_011539532.1:p.Tyr400Ser
XM_011541231.1:c.1190A>C	XP_011539533.1:p.Tyr397Ser
XM_011541226.2:c.1706A>C	XP_011539528.1:p.Tyr569Ser
XM_011541227.2:c.1628A>C	XP_011539529.1:p.Tyr543Ser
XM_011541228.2:c.1595A>C	XP_011539530.1:p.Tyr532Ser
XM_011541231.2:c.1190A>C	XP_011539533.1:p.Tyr397Ser
XM_024446338.1:c.1595A>C	XP_024302106.1:p.Tyr532Ser
NM_006623.4:c.1484A>C MANE Select	NP_006614.2:p.Tyr495Ser