Canonical Allele Identifier: CA341854237

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286542C>T (hg19) ; chr1:g.119743919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743919C>T , CM000663.2:g.119743919C>T	GRCh38
NC_000001.10:g.120286542C>T , CM000663.1:g.120286542C>T	GRCh37
NC_000001.9:g.120088065C>T	NCBI36
NG_009188.1:g.37124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1500C>T	ENSP00000358417.5:p.Val500=
ENST00000641023.2:c.1481C>T MANE Select	ENSP00000493175.1:p.Ser494Phe
ENST00000641074.1:c.*60C>T	ENSP00000493446.1:n.*60C>T
ENST00000641115.1:c.1217C>T	ENSP00000493264.1:p.Ser406Phe
ENST00000641213.1:c.*1134C>T	ENSP00000493079.1:n.*1134C>T
ENST00000641314.1:n.1466C>T
ENST00000641375.1:c.*1317C>T	ENSP00000493089.1:n.*1317C>T
ENST00000641597.1:c.1481C>T	ENSP00000493382.1:p.Ser494Phe
ENST00000641756.1:c.*1225C>T	ENSP00000493147.1:n.*1225C>T
ENST00000641811.1:c.735C>T
ENST00000641891.1:c.*1307C>T	ENSP00000493288.1:n.*1307C>T
ENST00000641927.1:n.1421C>T
ENST00000641947.1:c.1460C>T	ENSP00000492994.1:p.Ser487Phe
ENST00000642021.1:n.2512C>T
ENST00000369407.3:c.1379C>T	ENSP00000358415.3:p.Ser460Phe
ENST00000369409.8:c.1481C>T	ENSP00000358417.4:p.Ser494Phe
ENST00000482968.1:n.1460C>T
NM_006623.3:c.1481C>T	NP_006614.2:p.Ser494Phe
XM_011541226.1:c.1703C>T	XP_011539528.1:p.Ser568Phe
XM_011541227.1:c.1625C>T	XP_011539529.1:p.Ser542Phe
XM_011541228.1:c.1592C>T	XP_011539530.1:p.Ser531Phe
XM_011541229.1:c.1418C>T	XP_011539531.1:p.Ser473Phe
XM_011541230.1:c.1196C>T	XP_011539532.1:p.Ser399Phe
XM_011541231.1:c.1187C>T	XP_011539533.1:p.Ser396Phe
XM_011541226.2:c.1703C>T	XP_011539528.1:p.Ser568Phe
XM_011541227.2:c.1625C>T	XP_011539529.1:p.Ser542Phe
XM_011541228.2:c.1592C>T	XP_011539530.1:p.Ser531Phe
XM_011541231.2:c.1187C>T	XP_011539533.1:p.Ser396Phe
XM_024446338.1:c.1592C>T	XP_024302106.1:p.Ser531Phe
NM_006623.4:c.1481C>T MANE Select	NP_006614.2:p.Ser494Phe