Canonical Allele Identifier: CA341854204

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286535C>A (hg19) ; chr1:g.119743912C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743912C>A , CM000663.2:g.119743912C>A	GRCh38
NC_000001.10:g.120286535C>A , CM000663.1:g.120286535C>A	GRCh37
NC_000001.9:g.120088058C>A	NCBI36
NG_009188.1:g.37117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1493C>A	ENSP00000358417.5:p.Ala498Asp
ENST00000641023.2:c.1474C>A MANE Select	ENSP00000493175.1:p.Leu492Met
ENST00000641074.1:c.*53C>A	ENSP00000493446.1:n.*53C>A
ENST00000641115.1:c.1210C>A	ENSP00000493264.1:p.Leu404Met
ENST00000641213.1:c.*1127C>A	ENSP00000493079.1:n.*1127C>A
ENST00000641314.1:n.1459C>A
ENST00000641375.1:c.*1310C>A	ENSP00000493089.1:n.*1310C>A
ENST00000641597.1:c.1474C>A	ENSP00000493382.1:p.Leu492Met
ENST00000641756.1:c.*1218C>A	ENSP00000493147.1:n.*1218C>A
ENST00000641811.1:c.728C>A
ENST00000641891.1:c.*1300C>A	ENSP00000493288.1:n.*1300C>A
ENST00000641927.1:n.1414C>A
ENST00000641947.1:c.1453C>A	ENSP00000492994.1:p.Leu485Met
ENST00000642021.1:n.2505C>A
ENST00000369407.3:c.1372C>A	ENSP00000358415.3:p.Leu458Met
ENST00000369409.8:c.1474C>A	ENSP00000358417.4:p.Leu492Met
ENST00000482968.1:n.1453C>A
NM_006623.3:c.1474C>A	NP_006614.2:p.Leu492Met
XM_011541226.1:c.1696C>A	XP_011539528.1:p.Leu566Met
XM_011541227.1:c.1618C>A	XP_011539529.1:p.Leu540Met
XM_011541228.1:c.1585C>A	XP_011539530.1:p.Leu529Met
XM_011541229.1:c.1411C>A	XP_011539531.1:p.Leu471Met
XM_011541230.1:c.1189C>A	XP_011539532.1:p.Leu397Met
XM_011541231.1:c.1180C>A	XP_011539533.1:p.Leu394Met
XM_011541226.2:c.1696C>A	XP_011539528.1:p.Leu566Met
XM_011541227.2:c.1618C>A	XP_011539529.1:p.Leu540Met
XM_011541228.2:c.1585C>A	XP_011539530.1:p.Leu529Met
XM_011541231.2:c.1180C>A	XP_011539533.1:p.Leu394Met
XM_024446338.1:c.1585C>A	XP_024302106.1:p.Leu529Met
NM_006623.4:c.1474C>A MANE Select	NP_006614.2:p.Leu492Met