Canonical Allele Identifier: CA341854329

Gene: PHGDH

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743934T>C , CM000663.2:g.119743934T>C	GRCh38
NC_000001.10:g.120286557T>C , CM000663.1:g.120286557T>C	GRCh37
NC_000001.9:g.120088080T>C	NCBI36
NG_009188.1:g.37139T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1515T>C	ENSP00000358417.5:p.Thr505=
ENST00000641023.2:c.1496T>C MANE Select	ENSP00000493175.1:p.Leu499Pro
ENST00000641074.1:c.*75T>C	ENSP00000493446.1:n.*75T>C
ENST00000641115.1:c.1232T>C	ENSP00000493264.1:p.Leu411Pro
ENST00000641213.1:c.*1149T>C	ENSP00000493079.1:n.*1149T>C
ENST00000641314.1:n.1481T>C
ENST00000641375.1:c.*1332T>C	ENSP00000493089.1:n.*1332T>C
ENST00000641597.1:c.1496T>C	ENSP00000493382.1:p.Leu499Pro
ENST00000641756.1:c.*1240T>C	ENSP00000493147.1:n.*1240T>C
ENST00000641811.1:c.750T>C
ENST00000641891.1:c.*1322T>C	ENSP00000493288.1:n.*1322T>C
ENST00000641927.1:n.1436T>C
ENST00000641947.1:c.1475T>C	ENSP00000492994.1:p.Leu492Pro
ENST00000642021.1:n.2527T>C
ENST00000369407.3:c.1394T>C	ENSP00000358415.3:p.Leu465Pro
ENST00000369409.8:c.1496T>C	ENSP00000358417.4:p.Leu499Pro
ENST00000482968.1:n.1475T>C
NM_006623.3:c.1496T>C	NP_006614.2:p.Leu499Pro
XM_011541226.1:c.1718T>C	XP_011539528.1:p.Leu573Pro
XM_011541227.1:c.1640T>C	XP_011539529.1:p.Leu547Pro
XM_011541228.1:c.1607T>C	XP_011539530.1:p.Leu536Pro
XM_011541229.1:c.1433T>C	XP_011539531.1:p.Leu478Pro
XM_011541230.1:c.1211T>C	XP_011539532.1:p.Leu404Pro
XM_011541231.1:c.1202T>C	XP_011539533.1:p.Leu401Pro
XM_011541226.2:c.1718T>C	XP_011539528.1:p.Leu573Pro
XM_011541227.2:c.1640T>C	XP_011539529.1:p.Leu547Pro
XM_011541228.2:c.1607T>C	XP_011539530.1:p.Leu536Pro
XM_011541231.2:c.1202T>C	XP_011539533.1:p.Leu401Pro
XM_024446338.1:c.1607T>C	XP_024302106.1:p.Leu536Pro
NM_006623.4:c.1496T>C MANE Select	NP_006614.2:p.Leu499Pro