Canonical Allele Identifier: CA341847545

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269479T>G (hg19) ; chr1:g.119726856T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726856T>G , CM000663.2:g.119726856T>G	GRCh38
NC_000001.10:g.120269479T>G , CM000663.1:g.120269479T>G	GRCh37
NC_000001.9:g.120071002T>G	NCBI36
NG_009188.1:g.20061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.362T>G	ENSP00000358417.5:p.Ile121Ser
ENST00000462324.2:n.445T>G
ENST00000641023.2:c.362T>G MANE Select	ENSP00000493175.1:p.Ile121Ser
ENST00000641074.1:c.362T>G	ENSP00000493446.1:p.Ile121Ser
ENST00000641115.1:c.362T>G	ENSP00000493264.1:p.Ile121Ser
ENST00000641213.1:c.*15T>G	ENSP00000493079.1:n.*15T>G
ENST00000641247.1:c.*81T>G	ENSP00000492955.1:n.*81T>G
ENST00000641272.1:c.296T>G	ENSP00000493432.1:p.Ile99Ser
ENST00000641314.1:n.347T>G
ENST00000641371.1:c.276T>G	ENSP00000493305.1:p.Asp92Glu
ENST00000641375.1:c.*198T>G	ENSP00000493089.1:n.*198T>G
ENST00000641491.1:c.*15T>G	ENSP00000493187.1:n.*15T>G
ENST00000641513.1:c.*106T>G	ENSP00000493398.1:n.*106T>G
ENST00000641570.1:c.*81T>G	ENSP00000493213.1:n.*81T>G
ENST00000641573.1:n.450T>G
ENST00000641587.1:c.*73T>G	ENSP00000493453.1:n.*73T>G
ENST00000641597.1:c.362T>G	ENSP00000493382.1:p.Ile121Ser
ENST00000641711.1:n.586T>G
ENST00000641756.1:c.*106T>G	ENSP00000493147.1:n.*106T>G
ENST00000641811.1:c.118T>G
ENST00000641847.1:n.221T>G
ENST00000641891.1:c.*188T>G	ENSP00000493288.1:n.*188T>G
ENST00000641927.1:n.302T>G
ENST00000641947.1:c.362T>G	ENSP00000492994.1:p.Ile121Ser
ENST00000642021.1:n.484T>G
ENST00000642041.1:c.*401T>G	ENSP00000493415.1:n.*401T>G
ENST00000369407.3:c.260T>G	ENSP00000358415.3:p.Ile87Ser
ENST00000369409.8:c.362T>G	ENSP00000358417.4:p.Ile121Ser
ENST00000462324.1:n.630T>G
ENST00000493622.5:n.551T>G
NM_006623.3:c.362T>G	NP_006614.2:p.Ile121Ser
XM_011541226.1:c.584T>G	XP_011539528.1:p.Ile195Ser
XM_011541227.1:c.506T>G	XP_011539529.1:p.Ile169Ser
XM_011541228.1:c.473T>G	XP_011539530.1:p.Ile158Ser
XM_011541229.1:c.299T>G	XP_011539531.1:p.Ile100Ser
XM_011541230.1:c.77T>G	XP_011539532.1:p.Ile26Ser
XM_011541231.1:c.68T>G	XP_011539533.1:p.Ile23Ser
XM_011541226.2:c.584T>G	XP_011539528.1:p.Ile195Ser
XM_011541227.2:c.506T>G	XP_011539529.1:p.Ile169Ser
XM_011541228.2:c.473T>G	XP_011539530.1:p.Ile158Ser
XM_011541231.2:c.68T>G	XP_011539533.1:p.Ile23Ser
XM_024446338.1:c.473T>G	XP_024302106.1:p.Ile158Ser
NM_006623.4:c.362T>G MANE Select	NP_006614.2:p.Ile121Ser