Canonical Allele Identifier: CA341847660

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269628T>C (hg19) ; chr1:g.119727005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727005T>C , CM000663.2:g.119727005T>C	GRCh38
NC_000001.10:g.120269628T>C , CM000663.1:g.120269628T>C	GRCh37
NC_000001.9:g.120071151T>C	NCBI36
NG_009188.1:g.20210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.413T>C	ENSP00000358417.5:p.Phe138Ser
ENST00000462324.2:n.496T>C
ENST00000641023.2:c.413T>C MANE Select	ENSP00000493175.1:p.Phe138Ser
ENST00000641074.1:c.413T>C	ENSP00000493446.1:p.Phe138Ser
ENST00000641115.1:c.413T>C	ENSP00000493264.1:p.Phe138Ser
ENST00000641213.1:c.*66T>C	ENSP00000493079.1:n.*66T>C
ENST00000641247.1:c.*132T>C	ENSP00000492955.1:n.*132T>C
ENST00000641272.1:c.347T>C	ENSP00000493432.1:p.Phe116Ser
ENST00000641314.1:n.398T>C
ENST00000641371.1:c.327T>C	ENSP00000493305.1:p.Val109=
ENST00000641375.1:c.*249T>C	ENSP00000493089.1:n.*249T>C
ENST00000641491.1:c.*66T>C	ENSP00000493187.1:n.*66T>C
ENST00000641570.1:c.*132T>C	ENSP00000493213.1:n.*132T>C
ENST00000641573.1:n.501T>C
ENST00000641587.1:c.*124T>C	ENSP00000493453.1:n.*124T>C
ENST00000641597.1:c.413T>C	ENSP00000493382.1:p.Phe138Ser
ENST00000641711.1:n.637T>C
ENST00000641756.1:c.*157T>C	ENSP00000493147.1:n.*157T>C
ENST00000641811.1:c.169T>C
ENST00000641847.1:n.272T>C
ENST00000641891.1:c.*239T>C	ENSP00000493288.1:n.*239T>C
ENST00000641927.1:n.353T>C
ENST00000641947.1:c.413T>C	ENSP00000492994.1:p.Phe138Ser
ENST00000642021.1:n.535T>C
ENST00000642041.1:c.*452T>C	ENSP00000493415.1:n.*452T>C
ENST00000369407.3:c.311T>C	ENSP00000358415.3:p.Phe104Ser
ENST00000369409.8:c.413T>C	ENSP00000358417.4:p.Phe138Ser
ENST00000462324.1:n.681T>C
ENST00000493622.5:n.602T>C
NM_006623.3:c.413T>C	NP_006614.2:p.Phe138Ser
XM_011541226.1:c.635T>C	XP_011539528.1:p.Phe212Ser
XM_011541227.1:c.557T>C	XP_011539529.1:p.Phe186Ser
XM_011541228.1:c.524T>C	XP_011539530.1:p.Phe175Ser
XM_011541229.1:c.350T>C	XP_011539531.1:p.Phe117Ser
XM_011541230.1:c.128T>C	XP_011539532.1:p.Phe43Ser
XM_011541231.1:c.119T>C	XP_011539533.1:p.Phe40Ser
XM_011541226.2:c.635T>C	XP_011539528.1:p.Phe212Ser
XM_011541227.2:c.557T>C	XP_011539529.1:p.Phe186Ser
XM_011541228.2:c.524T>C	XP_011539530.1:p.Phe175Ser
XM_011541231.2:c.119T>C	XP_011539533.1:p.Phe40Ser
XM_024446338.1:c.524T>C	XP_024302106.1:p.Phe175Ser
NM_006623.4:c.413T>C MANE Select	NP_006614.2:p.Phe138Ser