Canonical Allele Identifier: CA341847535

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269476A>C (hg19) ; chr1:g.119726853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726853A>C , CM000663.2:g.119726853A>C	GRCh38
NC_000001.10:g.120269476A>C , CM000663.1:g.120269476A>C	GRCh37
NC_000001.9:g.120070999A>C	NCBI36
NG_009188.1:g.20058A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.359A>C	ENSP00000358417.5:p.Gln120Pro
ENST00000462324.2:n.442A>C
ENST00000641023.2:c.359A>C MANE Select	ENSP00000493175.1:p.Gln120Pro
ENST00000641074.1:c.359A>C	ENSP00000493446.1:p.Gln120Pro
ENST00000641115.1:c.359A>C	ENSP00000493264.1:p.Gln120Pro
ENST00000641213.1:c.*12A>C	ENSP00000493079.1:n.*12A>C
ENST00000641247.1:c.*78A>C	ENSP00000492955.1:n.*78A>C
ENST00000641272.1:c.293A>C	ENSP00000493432.1:p.Gln98Pro
ENST00000641314.1:n.344A>C
ENST00000641371.1:c.273A>C	ENSP00000493305.1:p.Ala91=
ENST00000641375.1:c.*195A>C	ENSP00000493089.1:n.*195A>C
ENST00000641491.1:c.*12A>C	ENSP00000493187.1:n.*12A>C
ENST00000641513.1:c.*103A>C	ENSP00000493398.1:n.*103A>C
ENST00000641570.1:c.*78A>C	ENSP00000493213.1:n.*78A>C
ENST00000641573.1:n.447A>C
ENST00000641587.1:c.*70A>C	ENSP00000493453.1:n.*70A>C
ENST00000641597.1:c.359A>C	ENSP00000493382.1:p.Gln120Pro
ENST00000641711.1:n.583A>C
ENST00000641756.1:c.*103A>C	ENSP00000493147.1:n.*103A>C
ENST00000641811.1:c.115A>C
ENST00000641847.1:n.218A>C
ENST00000641891.1:c.*185A>C	ENSP00000493288.1:n.*185A>C
ENST00000641927.1:n.299A>C
ENST00000641947.1:c.359A>C	ENSP00000492994.1:p.Gln120Pro
ENST00000642021.1:n.481A>C
ENST00000642041.1:c.*398A>C	ENSP00000493415.1:n.*398A>C
ENST00000369407.3:c.257A>C	ENSP00000358415.3:p.Gln86Pro
ENST00000369409.8:c.359A>C	ENSP00000358417.4:p.Gln120Pro
ENST00000462324.1:n.627A>C
ENST00000493622.5:n.548A>C
NM_006623.3:c.359A>C	NP_006614.2:p.Gln120Pro
XM_011541226.1:c.581A>C	XP_011539528.1:p.Gln194Pro
XM_011541227.1:c.503A>C	XP_011539529.1:p.Gln168Pro
XM_011541228.1:c.470A>C	XP_011539530.1:p.Gln157Pro
XM_011541229.1:c.296A>C	XP_011539531.1:p.Gln99Pro
XM_011541230.1:c.74A>C	XP_011539532.1:p.Gln25Pro
XM_011541231.1:c.65A>C	XP_011539533.1:p.Gln22Pro
XM_011541226.2:c.581A>C	XP_011539528.1:p.Gln194Pro
XM_011541227.2:c.503A>C	XP_011539529.1:p.Gln168Pro
XM_011541228.2:c.470A>C	XP_011539530.1:p.Gln157Pro
XM_011541231.2:c.65A>C	XP_011539533.1:p.Gln22Pro
XM_024446338.1:c.470A>C	XP_024302106.1:p.Gln157Pro
NM_006623.4:c.359A>C MANE Select	NP_006614.2:p.Gln120Pro