Canonical Allele Identifier: CA341847785

Gene: PHGDH

Linked Data

• dbSNP Id: rs1306977353
• gnomAD v2: 1-120269689-A-C
• gnomAD v4: 1-119727066-A-C
• MyVariant Identifiers: chr1:g.120269689A>C (hg19) ; chr1:g.119727066A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727066A>C , CM000663.2:g.119727066A>C	GRCh38
NC_000001.10:g.120269689A>C , CM000663.1:g.120269689A>C	GRCh37
NC_000001.9:g.120071212A>C	NCBI36
NG_009188.1:g.20271A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.474A>C	ENSP00000358417.5:p.Arg158Ser
ENST00000462324.2:n.557A>C
ENST00000641023.2:c.474A>C MANE Select	ENSP00000493175.1:p.Arg158Ser
ENST00000641074.1:c.474A>C	ENSP00000493446.1:p.Arg158Ser
ENST00000641115.1:c.474A>C	ENSP00000493264.1:p.Arg158Ser
ENST00000641213.1:c.*127A>C	ENSP00000493079.1:n.*127A>C
ENST00000641247.1:c.*193A>C	ENSP00000492955.1:n.*193A>C
ENST00000641272.1:c.408A>C	ENSP00000493432.1:p.Arg136Ser
ENST00000641314.1:n.459A>C
ENST00000641371.1:c.388A>C	ENSP00000493305.1:p.Arg130=
ENST00000641375.1:c.*310A>C	ENSP00000493089.1:n.*310A>C
ENST00000641455.1:n.19A>C
ENST00000641491.1:c.*127A>C	ENSP00000493187.1:n.*127A>C
ENST00000641570.1:c.*193A>C	ENSP00000493213.1:n.*193A>C
ENST00000641573.1:n.562A>C
ENST00000641587.1:c.*185A>C	ENSP00000493453.1:n.*185A>C
ENST00000641597.1:c.474A>C	ENSP00000493382.1:p.Arg158Ser
ENST00000641711.1:n.698A>C
ENST00000641756.1:c.*218A>C	ENSP00000493147.1:n.*218A>C
ENST00000641811.1:c.230A>C
ENST00000641847.1:n.333A>C
ENST00000641891.1:c.*300A>C	ENSP00000493288.1:n.*300A>C
ENST00000641927.1:n.414A>C
ENST00000641947.1:c.474A>C	ENSP00000492994.1:p.Arg158Ser
ENST00000642021.1:n.596A>C
ENST00000369407.3:c.372A>C	ENSP00000358415.3:p.Arg124Ser
ENST00000369409.8:c.474A>C	ENSP00000358417.4:p.Arg158Ser
ENST00000462324.1:n.742A>C
ENST00000493622.5:n.663A>C
NM_006623.3:c.474A>C	NP_006614.2:p.Arg158Ser
XM_011541226.1:c.696A>C	XP_011539528.1:p.Arg232Ser
XM_011541227.1:c.618A>C	XP_011539529.1:p.Arg206Ser
XM_011541228.1:c.585A>C	XP_011539530.1:p.Arg195Ser
XM_011541229.1:c.411A>C	XP_011539531.1:p.Arg137Ser
XM_011541230.1:c.189A>C	XP_011539532.1:p.Arg63Ser
XM_011541231.1:c.180A>C	XP_011539533.1:p.Arg60Ser
XM_011541226.2:c.696A>C	XP_011539528.1:p.Arg232Ser
XM_011541227.2:c.618A>C	XP_011539529.1:p.Arg206Ser
XM_011541228.2:c.585A>C	XP_011539530.1:p.Arg195Ser
XM_011541231.2:c.180A>C	XP_011539533.1:p.Arg60Ser
XM_024446338.1:c.585A>C	XP_024302106.1:p.Arg195Ser
NM_006623.4:c.474A>C MANE Select	NP_006614.2:p.Arg158Ser