Canonical Allele Identifier: CA341847622

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269517G>C (hg19) ; chr1:g.119726894G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726894G>C , CM000663.2:g.119726894G>C	GRCh38
NC_000001.10:g.120269517G>C , CM000663.1:g.120269517G>C	GRCh37
NC_000001.9:g.120071040G>C	NCBI36
NG_009188.1:g.20099G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.400G>C	ENSP00000358417.5:p.Glu134Gln
ENST00000462324.2:n.483G>C
ENST00000641023.2:c.400G>C MANE Select	ENSP00000493175.1:p.Glu134Gln
ENST00000641074.1:c.400G>C	ENSP00000493446.1:p.Glu134Gln
ENST00000641115.1:c.400G>C	ENSP00000493264.1:p.Glu134Gln
ENST00000641213.1:c.*53G>C	ENSP00000493079.1:n.*53G>C
ENST00000641247.1:c.*119G>C	ENSP00000492955.1:n.*119G>C
ENST00000641272.1:c.334G>C	ENSP00000493432.1:p.Glu112Gln
ENST00000641314.1:n.385G>C
ENST00000641371.1:c.314G>C	ENSP00000493305.1:p.Gly105Ala
ENST00000641375.1:c.*236G>C	ENSP00000493089.1:n.*236G>C
ENST00000641491.1:c.*53G>C	ENSP00000493187.1:n.*53G>C
ENST00000641513.1:c.*144G>C	ENSP00000493398.1:n.*144G>C
ENST00000641570.1:c.*119G>C	ENSP00000493213.1:n.*119G>C
ENST00000641573.1:n.488G>C
ENST00000641587.1:c.*111G>C	ENSP00000493453.1:n.*111G>C
ENST00000641597.1:c.400G>C	ENSP00000493382.1:p.Glu134Gln
ENST00000641711.1:n.624G>C
ENST00000641756.1:c.*144G>C	ENSP00000493147.1:n.*144G>C
ENST00000641811.1:c.156G>C
ENST00000641847.1:n.259G>C
ENST00000641891.1:c.*226G>C	ENSP00000493288.1:n.*226G>C
ENST00000641927.1:n.340G>C
ENST00000641947.1:c.400G>C	ENSP00000492994.1:p.Glu134Gln
ENST00000642021.1:n.522G>C
ENST00000642041.1:c.*439G>C	ENSP00000493415.1:n.*439G>C
ENST00000369407.3:c.298G>C	ENSP00000358415.3:p.Glu100Gln
ENST00000369409.8:c.400G>C	ENSP00000358417.4:p.Glu134Gln
ENST00000462324.1:n.668G>C
ENST00000493622.5:n.589G>C
NM_006623.3:c.400G>C	NP_006614.2:p.Glu134Gln
XM_011541226.1:c.622G>C	XP_011539528.1:p.Glu208Gln
XM_011541227.1:c.544G>C	XP_011539529.1:p.Glu182Gln
XM_011541228.1:c.511G>C	XP_011539530.1:p.Glu171Gln
XM_011541229.1:c.337G>C	XP_011539531.1:p.Glu113Gln
XM_011541230.1:c.115G>C	XP_011539532.1:p.Glu39Gln
XM_011541231.1:c.106G>C	XP_011539533.1:p.Glu36Gln
XM_011541226.2:c.622G>C	XP_011539528.1:p.Glu208Gln
XM_011541227.2:c.544G>C	XP_011539529.1:p.Glu182Gln
XM_011541228.2:c.511G>C	XP_011539530.1:p.Glu171Gln
XM_011541231.2:c.106G>C	XP_011539533.1:p.Glu36Gln
XM_024446338.1:c.511G>C	XP_024302106.1:p.Glu171Gln
NM_006623.4:c.400G>C MANE Select	NP_006614.2:p.Glu134Gln