Canonical Allele Identifier: CA420012741

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269489G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726866G>C , CM000663.2:g.119726866G>C	GRCh38
NC_000001.10:g.120269489G>C , CM000663.1:g.120269489G>C	GRCh37
NC_000001.9:g.120071012G>C	NCBI36
NG_009188.1:g.20071G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.372G>C	ENSP00000358417.5:p.Ala124=
ENST00000462324.2:n.455G>C
ENST00000641023.2:c.372G>C MANE Select	ENSP00000493175.1:p.Ala124=
ENST00000641074.1:c.372G>C	ENSP00000493446.1:p.Ala124=
ENST00000641115.1:c.372G>C	ENSP00000493264.1:p.Ala124=
ENST00000641213.1:c.*25G>C	ENSP00000493079.1:n.*25G>C
ENST00000641247.1:c.*91G>C	ENSP00000492955.1:n.*91G>C
ENST00000641272.1:c.306G>C	ENSP00000493432.1:p.Ala102=
ENST00000641314.1:n.357G>C
ENST00000641371.1:c.286G>C	ENSP00000493305.1:p.Asp96His
ENST00000641375.1:c.*208G>C	ENSP00000493089.1:n.*208G>C
ENST00000641491.1:c.*25G>C	ENSP00000493187.1:n.*25G>C
ENST00000641513.1:c.*116G>C	ENSP00000493398.1:n.*116G>C
ENST00000641570.1:c.*91G>C	ENSP00000493213.1:n.*91G>C
ENST00000641573.1:n.460G>C
ENST00000641587.1:c.*83G>C	ENSP00000493453.1:n.*83G>C
ENST00000641597.1:c.372G>C	ENSP00000493382.1:p.Ala124=
ENST00000641711.1:n.596G>C
ENST00000641756.1:c.*116G>C	ENSP00000493147.1:n.*116G>C
ENST00000641811.1:c.128G>C
ENST00000641847.1:n.231G>C
ENST00000641891.1:c.*198G>C	ENSP00000493288.1:n.*198G>C
ENST00000641927.1:n.312G>C
ENST00000641947.1:c.372G>C	ENSP00000492994.1:p.Ala124=
ENST00000642021.1:n.494G>C
ENST00000642041.1:c.*411G>C	ENSP00000493415.1:n.*411G>C
ENST00000369407.3:c.270G>C	ENSP00000358415.3:p.Ala90=
ENST00000369409.8:c.372G>C	ENSP00000358417.4:p.Ala124=
ENST00000462324.1:n.640G>C
ENST00000493622.5:n.561G>C
NM_006623.3:c.372G>C	NP_006614.2:p.Ala124=
XM_011541226.1:c.594G>C	XP_011539528.1:p.Ala198=
XM_011541227.1:c.516G>C	XP_011539529.1:p.Ala172=
XM_011541228.1:c.483G>C	XP_011539530.1:p.Ala161=
XM_011541229.1:c.309G>C	XP_011539531.1:p.Ala103=
XM_011541230.1:c.87G>C	XP_011539532.1:p.Ala29=
XM_011541231.1:c.78G>C	XP_011539533.1:p.Ala26=
XM_011541226.2:c.594G>C	XP_011539528.1:p.Ala198=
XM_011541227.2:c.516G>C	XP_011539529.1:p.Ala172=
XM_011541228.2:c.483G>C	XP_011539530.1:p.Ala161=
XM_011541231.2:c.78G>C	XP_011539533.1:p.Ala26=
XM_024446338.1:c.483G>C	XP_024302106.1:p.Ala161=
NM_006623.4:c.372G>C MANE Select	NP_006614.2:p.Ala124=