Canonical Allele Identifier: CA341854233

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286541T>C (hg19) ; chr1:g.119743918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743918T>C , CM000663.2:g.119743918T>C	GRCh38
NC_000001.10:g.120286541T>C , CM000663.1:g.120286541T>C	GRCh37
NC_000001.9:g.120088064T>C	NCBI36
NG_009188.1:g.37123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1499T>C	ENSP00000358417.5:p.Val500Ala
ENST00000641023.2:c.1480T>C MANE Select	ENSP00000493175.1:p.Ser494Pro
ENST00000641074.1:c.*59T>C	ENSP00000493446.1:n.*59T>C
ENST00000641115.1:c.1216T>C	ENSP00000493264.1:p.Ser406Pro
ENST00000641213.1:c.*1133T>C	ENSP00000493079.1:n.*1133T>C
ENST00000641314.1:n.1465T>C
ENST00000641375.1:c.*1316T>C	ENSP00000493089.1:n.*1316T>C
ENST00000641597.1:c.1480T>C	ENSP00000493382.1:p.Ser494Pro
ENST00000641756.1:c.*1224T>C	ENSP00000493147.1:n.*1224T>C
ENST00000641811.1:c.734T>C
ENST00000641891.1:c.*1306T>C	ENSP00000493288.1:n.*1306T>C
ENST00000641927.1:n.1420T>C
ENST00000641947.1:c.1459T>C	ENSP00000492994.1:p.Ser487Pro
ENST00000642021.1:n.2511T>C
ENST00000369407.3:c.1378T>C	ENSP00000358415.3:p.Ser460Pro
ENST00000369409.8:c.1480T>C	ENSP00000358417.4:p.Ser494Pro
ENST00000482968.1:n.1459T>C
NM_006623.3:c.1480T>C	NP_006614.2:p.Ser494Pro
XM_011541226.1:c.1702T>C	XP_011539528.1:p.Ser568Pro
XM_011541227.1:c.1624T>C	XP_011539529.1:p.Ser542Pro
XM_011541228.1:c.1591T>C	XP_011539530.1:p.Ser531Pro
XM_011541229.1:c.1417T>C	XP_011539531.1:p.Ser473Pro
XM_011541230.1:c.1195T>C	XP_011539532.1:p.Ser399Pro
XM_011541231.1:c.1186T>C	XP_011539533.1:p.Ser396Pro
XM_011541226.2:c.1702T>C	XP_011539528.1:p.Ser568Pro
XM_011541227.2:c.1624T>C	XP_011539529.1:p.Ser542Pro
XM_011541228.2:c.1591T>C	XP_011539530.1:p.Ser531Pro
XM_011541231.2:c.1186T>C	XP_011539533.1:p.Ser396Pro
XM_024446338.1:c.1591T>C	XP_024302106.1:p.Ser531Pro
NM_006623.4:c.1480T>C MANE Select	NP_006614.2:p.Ser494Pro