Canonical Allele Identifier: CA420017202

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743929T>C , CM000663.2:g.119743929T>C	GRCh38
NC_000001.10:g.120286552T>C , CM000663.1:g.120286552T>C	GRCh37
NC_000001.9:g.120088075T>C	NCBI36
NG_009188.1:g.37134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1510T>C	ENSP00000358417.5:p.Phe504Leu
ENST00000641023.2:c.1491T>C MANE Select	ENSP00000493175.1:p.Thr497=
ENST00000641074.1:c.*70T>C	ENSP00000493446.1:n.*70T>C
ENST00000641115.1:c.1227T>C	ENSP00000493264.1:p.Thr409=
ENST00000641213.1:c.*1144T>C	ENSP00000493079.1:n.*1144T>C
ENST00000641314.1:n.1476T>C
ENST00000641375.1:c.*1327T>C	ENSP00000493089.1:n.*1327T>C
ENST00000641597.1:c.1491T>C	ENSP00000493382.1:p.Thr497=
ENST00000641756.1:c.*1235T>C	ENSP00000493147.1:n.*1235T>C
ENST00000641811.1:c.745T>C
ENST00000641891.1:c.*1317T>C	ENSP00000493288.1:n.*1317T>C
ENST00000641927.1:n.1431T>C
ENST00000641947.1:c.1470T>C	ENSP00000492994.1:p.Thr490=
ENST00000642021.1:n.2522T>C
ENST00000369407.3:c.1389T>C	ENSP00000358415.3:p.Thr463=
ENST00000369409.8:c.1491T>C	ENSP00000358417.4:p.Thr497=
ENST00000482968.1:n.1470T>C
NM_006623.3:c.1491T>C	NP_006614.2:p.Thr497=
XM_011541226.1:c.1713T>C	XP_011539528.1:p.Thr571=
XM_011541227.1:c.1635T>C	XP_011539529.1:p.Thr545=
XM_011541228.1:c.1602T>C	XP_011539530.1:p.Thr534=
XM_011541229.1:c.1428T>C	XP_011539531.1:p.Thr476=
XM_011541230.1:c.1206T>C	XP_011539532.1:p.Thr402=
XM_011541231.1:c.1197T>C	XP_011539533.1:p.Thr399=
XM_011541226.2:c.1713T>C	XP_011539528.1:p.Thr571=
XM_011541227.2:c.1635T>C	XP_011539529.1:p.Thr545=
XM_011541228.2:c.1602T>C	XP_011539530.1:p.Thr534=
XM_011541231.2:c.1197T>C	XP_011539533.1:p.Thr399=
XM_024446338.1:c.1602T>C	XP_024302106.1:p.Thr534=
NM_006623.4:c.1491T>C MANE Select	NP_006614.2:p.Thr497=