Canonical Allele Identifier: CA341853609

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119742870G>T , CM000663.2:g.119742870G>T	GRCh38
NC_000001.10:g.120285493G>T , CM000663.1:g.120285493G>T	GRCh37
NC_000001.9:g.120087016G>T	NCBI36
NG_009188.1:g.36075G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1273G>T	ENSP00000358417.5:p.Val425Leu
ENST00000641023.2:c.1273G>T MANE Select	ENSP00000493175.1:p.Val425Leu
ENST00000641074.1:c.1142G>T	ENSP00000493446.1:p.Arg381Leu
ENST00000641115.1:c.1009G>T	ENSP00000493264.1:p.Val337Leu
ENST00000641213.1:c.*926G>T	ENSP00000493079.1:n.*926G>T
ENST00000641314.1:n.1258G>T
ENST00000641375.1:c.*1109G>T	ENSP00000493089.1:n.*1109G>T
ENST00000641597.1:c.1273G>T	ENSP00000493382.1:p.Val425Leu
ENST00000641756.1:c.*1017G>T	ENSP00000493147.1:n.*1017G>T
ENST00000641811.1:c.702-1016G>T
ENST00000641891.1:c.*1099G>T	ENSP00000493288.1:n.*1099G>T
ENST00000641927.1:n.1213G>T
ENST00000641939.1:n.398G>T
ENST00000641947.1:c.1252G>T	ENSP00000492994.1:p.Val418Leu
ENST00000642021.1:n.2304G>T
ENST00000369407.3:c.1171G>T	ENSP00000358415.3:p.Val391Leu
ENST00000369409.8:c.1273G>T	ENSP00000358417.4:p.Val425Leu
ENST00000482968.1:n.1252G>T
NM_006623.3:c.1273G>T	NP_006614.2:p.Val425Leu
XM_011541226.1:c.1495G>T	XP_011539528.1:p.Val499Leu
XM_011541227.1:c.1417G>T	XP_011539529.1:p.Val473Leu
XM_011541228.1:c.1384G>T	XP_011539530.1:p.Val462Leu
XM_011541229.1:c.1210G>T	XP_011539531.1:p.Val404Leu
XM_011541230.1:c.988G>T	XP_011539532.1:p.Val330Leu
XM_011541231.1:c.979G>T	XP_011539533.1:p.Val327Leu
XM_011541226.2:c.1495G>T	XP_011539528.1:p.Val499Leu
XM_011541227.2:c.1417G>T	XP_011539529.1:p.Val473Leu
XM_011541228.2:c.1384G>T	XP_011539530.1:p.Val462Leu
XM_011541231.2:c.979G>T	XP_011539533.1:p.Val327Leu
XM_024446338.1:c.1384G>T	XP_024302106.1:p.Val462Leu
NM_006623.4:c.1273G>T MANE Select	NP_006614.2:p.Val425Leu