Canonical Allele Identifier: CA420012976

Gene: PHGDH

Linked Data

• dbSNP Id: rs1417711391
• MyVariant Identifiers: chr1:g.120269704G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727081G>C , CM000663.2:g.119727081G>C	GRCh38
NC_000001.10:g.120269704G>C , CM000663.1:g.120269704G>C	GRCh37
NC_000001.9:g.120071227G>C	NCBI36
NG_009188.1:g.20286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.489G>C	ENSP00000358417.5:p.Arg163=
ENST00000462324.2:n.572G>C
ENST00000641023.2:c.489G>C MANE Select	ENSP00000493175.1:p.Arg163=
ENST00000641074.1:c.489G>C	ENSP00000493446.1:p.Arg163=
ENST00000641115.1:c.489G>C	ENSP00000493264.1:p.Arg163=
ENST00000641213.1:c.*142G>C	ENSP00000493079.1:n.*142G>C
ENST00000641247.1:c.*208G>C	ENSP00000492955.1:n.*208G>C
ENST00000641272.1:c.423G>C	ENSP00000493432.1:p.Arg141=
ENST00000641314.1:n.474G>C
ENST00000641371.1:c.403G>C	ENSP00000493305.1:p.Asp135His
ENST00000641375.1:c.*325G>C	ENSP00000493089.1:n.*325G>C
ENST00000641455.1:n.34G>C
ENST00000641491.1:c.*142G>C	ENSP00000493187.1:n.*142G>C
ENST00000641570.1:c.*208G>C	ENSP00000493213.1:n.*208G>C
ENST00000641573.1:n.577G>C
ENST00000641587.1:c.*200G>C	ENSP00000493453.1:n.*200G>C
ENST00000641597.1:c.489G>C	ENSP00000493382.1:p.Arg163=
ENST00000641756.1:c.*233G>C	ENSP00000493147.1:n.*233G>C
ENST00000641811.1:c.245G>C
ENST00000641847.1:n.348G>C
ENST00000641891.1:c.*315G>C	ENSP00000493288.1:n.*315G>C
ENST00000641927.1:n.429G>C
ENST00000641947.1:c.489G>C	ENSP00000492994.1:p.Arg163=
ENST00000642021.1:n.611G>C
ENST00000369407.3:c.387G>C	ENSP00000358415.3:p.Arg129=
ENST00000369409.8:c.489G>C	ENSP00000358417.4:p.Arg163=
ENST00000462324.1:n.757G>C
ENST00000493622.5:n.678G>C
NM_006623.3:c.489G>C	NP_006614.2:p.Arg163=
XM_011541226.1:c.711G>C	XP_011539528.1:p.Arg237=
XM_011541227.1:c.633G>C	XP_011539529.1:p.Arg211=
XM_011541228.1:c.600G>C	XP_011539530.1:p.Arg200=
XM_011541229.1:c.426G>C	XP_011539531.1:p.Arg142=
XM_011541230.1:c.204G>C	XP_011539532.1:p.Arg68=
XM_011541231.1:c.195G>C	XP_011539533.1:p.Arg65=
XM_011541226.2:c.711G>C	XP_011539528.1:p.Arg237=
XM_011541227.2:c.633G>C	XP_011539529.1:p.Arg211=
XM_011541228.2:c.600G>C	XP_011539530.1:p.Arg200=
XM_011541231.2:c.195G>C	XP_011539533.1:p.Arg65=
XM_024446338.1:c.600G>C	XP_024302106.1:p.Arg200=
NM_006623.4:c.489G>C MANE Select	NP_006614.2:p.Arg163=