Canonical Allele Identifier: CA1037217

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119735333G>T , CM000663.2:g.119735333G>T	GRCh38
NC_000001.10:g.120277956G>T , CM000663.1:g.120277956G>T	GRCh37
NC_000001.9:g.120079479G>T	NCBI36
NG_009188.1:g.28538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.682G>T	ENSP00000358417.5:p.Gly228Trp
ENST00000469443.2:n.502G>T
ENST00000641023.2:c.682G>T MANE Select	ENSP00000493175.1:p.Gly228Trp
ENST00000641074.1:c.682G>T	ENSP00000493446.1:p.Gly228Trp
ENST00000641115.1:c.682G>T	ENSP00000493264.1:p.Gly228Trp
ENST00000641213.1:c.*335G>T	ENSP00000493079.1:n.*335G>T
ENST00000641272.1:c.616G>T	ENSP00000493432.1:p.Gly206Trp
ENST00000641314.1:n.667G>T
ENST00000641371.1:c.*158G>T	ENSP00000493305.1:n.*158G>T
ENST00000641375.1:c.*518G>T	ENSP00000493089.1:n.*518G>T
ENST00000641597.1:c.682G>T	ENSP00000493382.1:p.Gly228Trp
ENST00000641756.1:c.*426G>T	ENSP00000493147.1:n.*426G>T
ENST00000641811.1:c.438G>T
ENST00000641891.1:c.*508G>T	ENSP00000493288.1:n.*508G>T
ENST00000641927.1:n.622G>T
ENST00000641947.1:c.682G>T	ENSP00000492994.1:p.Gly228Trp
ENST00000642021.1:n.804G>T
ENST00000369407.3:c.580G>T	ENSP00000358415.3:p.Gly194Trp
ENST00000369409.8:c.682G>T	ENSP00000358417.4:p.Gly228Trp
ENST00000469443.1:n.502G>T
NM_006623.3:c.682G>T	NP_006614.2:p.Gly228Trp
XM_011541226.1:c.904G>T	XP_011539528.1:p.Gly302Trp
XM_011541227.1:c.826G>T	XP_011539529.1:p.Gly276Trp
XM_011541228.1:c.793G>T	XP_011539530.1:p.Gly265Trp
XM_011541229.1:c.619G>T	XP_011539531.1:p.Gly207Trp
XM_011541230.1:c.397G>T	XP_011539532.1:p.Gly133Trp
XM_011541231.1:c.388G>T	XP_011539533.1:p.Gly130Trp
XM_011541226.2:c.904G>T	XP_011539528.1:p.Gly302Trp
XM_011541227.2:c.826G>T	XP_011539529.1:p.Gly276Trp
XM_011541228.2:c.793G>T	XP_011539530.1:p.Gly265Trp
XM_011541231.2:c.388G>T	XP_011539533.1:p.Gly130Trp
XM_024446338.1:c.793G>T	XP_024302106.1:p.Gly265Trp
NM_006623.4:c.682G>T MANE Select	NP_006614.2:p.Gly228Trp