Canonical Allele Identifier: CA30262501

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119740503C>T , CM000663.2:g.119740503C>T	GRCh38
NC_000001.10:g.120283126C>T , CM000663.1:g.120283126C>T	GRCh37
NC_000001.9:g.120084649C>T	NCBI36
NG_009188.1:g.33708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1063C>T	ENSP00000358417.5:p.Gln355Ter
ENST00000641023.2:c.1063C>T MANE Select	ENSP00000493175.1:p.Gln355Ter
ENST00000641074.1:c.1063C>T	ENSP00000493446.1:p.Gln355Ter
ENST00000641115.1:c.946-2304C>T	ENSP00000493264.1:n.946-2304C>T
ENST00000641213.1:c.*716C>T	ENSP00000493079.1:n.*716C>T
ENST00000641314.1:n.1048C>T
ENST00000641375.1:c.*899C>T	ENSP00000493089.1:n.*899C>T
ENST00000641597.1:c.1063C>T	ENSP00000493382.1:p.Gln355Ter
ENST00000641756.1:c.*807C>T	ENSP00000493147.1:n.*807C>T
ENST00000641811.1:c.701+3237C>T
ENST00000641891.1:c.*889C>T	ENSP00000493288.1:n.*889C>T
ENST00000641927.1:n.1003C>T
ENST00000641939.1:n.166C>T
ENST00000641947.1:c.1063C>T	ENSP00000492994.1:p.Gln355Ter
ENST00000642021.1:n.1185C>T
ENST00000369407.3:c.961C>T	ENSP00000358415.3:p.Gln321Ter
ENST00000369409.8:c.1063C>T	ENSP00000358417.4:p.Gln355Ter
ENST00000482968.1:n.1042C>T
NM_006623.3:c.1063C>T	NP_006614.2:p.Gln355Ter
XM_011541226.1:c.1285C>T	XP_011539528.1:p.Gln429Ter
XM_011541227.1:c.1207C>T	XP_011539529.1:p.Gln403Ter
XM_011541228.1:c.1174C>T	XP_011539530.1:p.Gln392Ter
XM_011541229.1:c.1000C>T	XP_011539531.1:p.Gln334Ter
XM_011541230.1:c.778C>T	XP_011539532.1:p.Gln260Ter
XM_011541231.1:c.769C>T	XP_011539533.1:p.Gln257Ter
XM_011541226.2:c.1285C>T	XP_011539528.1:p.Gln429Ter
XM_011541227.2:c.1207C>T	XP_011539529.1:p.Gln403Ter
XM_011541228.2:c.1174C>T	XP_011539530.1:p.Gln392Ter
XM_011541231.2:c.769C>T	XP_011539533.1:p.Gln257Ter
XM_024446338.1:c.1174C>T	XP_024302106.1:p.Gln392Ter
NM_006623.4:c.1063C>T MANE Select	NP_006614.2:p.Gln355Ter