Canonical Allele Identifier: CA341852664

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119740515C>T , CM000663.2:g.119740515C>T	GRCh38
NC_000001.10:g.120283138C>T , CM000663.1:g.120283138C>T	GRCh37
NC_000001.9:g.120084661C>T	NCBI36
NG_009188.1:g.33720C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006623.4:c.1075C>T MANE Select	NP_006614.2:p.Gln359Ter
ENST00000641023.2:c.1075C>T MANE Select	ENSP00000493175.1:p.Gln359Ter
NM_006623.3:c.1075C>T	NP_006614.2:p.Gln359Ter
ENST00000369407.3:c.973C>T	ENSP00000358415.3:p.Gln325Ter
ENST00000369409.8:c.1075C>T	ENSP00000358417.4:p.Gln359Ter
ENST00000369409.9:c.1075C>T	ENSP00000358417.5:p.Gln359Ter
ENST00000482968.1:n.1054C>T
ENST00000641074.1:c.1075C>T	ENSP00000493446.1:p.Gln359Ter
ENST00000641115.1:c.946-2292C>T	ENSP00000493264.1:n.946-2292C>T
ENST00000641213.1:c.*728C>T	ENSP00000493079.1:n.*728C>T
ENST00000641314.1:n.1060C>T
ENST00000641375.1:c.*911C>T	ENSP00000493089.1:n.*911C>T
ENST00000641597.1:c.1075C>T	ENSP00000493382.1:p.Gln359Ter
ENST00000641756.1:c.*819C>T	ENSP00000493147.1:n.*819C>T
ENST00000641811.1:c.701+3249C>T
ENST00000641891.1:c.*901C>T	ENSP00000493288.1:n.*901C>T
ENST00000641927.1:n.1015C>T
ENST00000641939.1:n.178C>T
ENST00000641947.1:c.1075C>T	ENSP00000492994.1:p.Gln359Ter
ENST00000642021.1:n.1197C>T
XM_011541226.1:c.1297C>T	XP_011539528.1:p.Gln433Ter
XM_011541226.2:c.1297C>T	XP_011539528.1:p.Gln433Ter
XM_011541227.1:c.1219C>T	XP_011539529.1:p.Gln407Ter
XM_011541227.2:c.1219C>T	XP_011539529.1:p.Gln407Ter
XM_011541228.1:c.1186C>T	XP_011539530.1:p.Gln396Ter
XM_011541228.2:c.1186C>T	XP_011539530.1:p.Gln396Ter
XM_011541229.1:c.1012C>T	XP_011539531.1:p.Gln338Ter
XM_011541230.1:c.790C>T	XP_011539532.1:p.Gln264Ter
XM_011541231.1:c.781C>T	XP_011539533.1:p.Gln261Ter
XM_011541231.2:c.781C>T	XP_011539533.1:p.Gln261Ter
XM_024446338.1:c.1186C>T	XP_024302106.1:p.Gln396Ter