Canonical Allele Identifier: CA341854192

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120286532C>G (hg19) ; chr1:g.119743909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119743909C>G , CM000663.2:g.119743909C>G	GRCh38
NC_000001.10:g.120286532C>G , CM000663.1:g.120286532C>G	GRCh37
NC_000001.9:g.120088055C>G	NCBI36
NG_009188.1:g.37114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1490C>G	ENSP00000358417.5:p.Ala497Gly
ENST00000641023.2:c.1471C>G MANE Select	ENSP00000493175.1:p.Arg491Gly
ENST00000641074.1:c.*50C>G	ENSP00000493446.1:n.*50C>G
ENST00000641115.1:c.1207C>G	ENSP00000493264.1:p.Arg403Gly
ENST00000641213.1:c.*1124C>G	ENSP00000493079.1:n.*1124C>G
ENST00000641314.1:n.1456C>G
ENST00000641375.1:c.*1307C>G	ENSP00000493089.1:n.*1307C>G
ENST00000641597.1:c.1471C>G	ENSP00000493382.1:p.Arg491Gly
ENST00000641756.1:c.*1215C>G	ENSP00000493147.1:n.*1215C>G
ENST00000641811.1:c.725C>G
ENST00000641891.1:c.*1297C>G	ENSP00000493288.1:n.*1297C>G
ENST00000641927.1:n.1411C>G
ENST00000641947.1:c.1450C>G	ENSP00000492994.1:p.Arg484Gly
ENST00000642021.1:n.2502C>G
ENST00000369407.3:c.1369C>G	ENSP00000358415.3:p.Arg457Gly
ENST00000369409.8:c.1471C>G	ENSP00000358417.4:p.Arg491Gly
ENST00000482968.1:n.1450C>G
NM_006623.3:c.1471C>G	NP_006614.2:p.Arg491Gly
XM_011541226.1:c.1693C>G	XP_011539528.1:p.Arg565Gly
XM_011541227.1:c.1615C>G	XP_011539529.1:p.Arg539Gly
XM_011541228.1:c.1582C>G	XP_011539530.1:p.Arg528Gly
XM_011541229.1:c.1408C>G	XP_011539531.1:p.Arg470Gly
XM_011541230.1:c.1186C>G	XP_011539532.1:p.Arg396Gly
XM_011541231.1:c.1177C>G	XP_011539533.1:p.Arg393Gly
XM_011541226.2:c.1693C>G	XP_011539528.1:p.Arg565Gly
XM_011541227.2:c.1615C>G	XP_011539529.1:p.Arg539Gly
XM_011541228.2:c.1582C>G	XP_011539530.1:p.Arg528Gly
XM_011541231.2:c.1177C>G	XP_011539533.1:p.Arg393Gly
XM_024446338.1:c.1582C>G	XP_024302106.1:p.Arg528Gly
NM_006623.4:c.1471C>G MANE Select	NP_006614.2:p.Arg491Gly