Canonical Allele Identifier: CA341847644

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269528G>C (hg19) ; chr1:g.119726905G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726905G>C , CM000663.2:g.119726905G>C	GRCh38
NC_000001.10:g.120269528G>C , CM000663.1:g.120269528G>C	GRCh37
NC_000001.9:g.120071051G>C	NCBI36
NG_009188.1:g.20110G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.411G>C	ENSP00000358417.5:p.Lys137Asn
ENST00000462324.2:n.494G>C
ENST00000641023.2:c.411G>C MANE Select	ENSP00000493175.1:p.Lys137Asn
ENST00000641074.1:c.411G>C	ENSP00000493446.1:p.Lys137Asn
ENST00000641115.1:c.411G>C	ENSP00000493264.1:p.Lys137Asn
ENST00000641213.1:c.*64G>C	ENSP00000493079.1:n.*64G>C
ENST00000641247.1:c.*130G>C	ENSP00000492955.1:n.*130G>C
ENST00000641272.1:c.345G>C	ENSP00000493432.1:p.Lys115Asn
ENST00000641314.1:n.396G>C
ENST00000641371.1:c.325G>C	ENSP00000493305.1:p.Val109Leu
ENST00000641375.1:c.*247G>C	ENSP00000493089.1:n.*247G>C
ENST00000641491.1:c.*64G>C	ENSP00000493187.1:n.*64G>C
ENST00000641570.1:c.*130G>C	ENSP00000493213.1:n.*130G>C
ENST00000641573.1:n.499G>C
ENST00000641587.1:c.*122G>C	ENSP00000493453.1:n.*122G>C
ENST00000641597.1:c.411G>C	ENSP00000493382.1:p.Lys137Asn
ENST00000641711.1:n.635G>C
ENST00000641756.1:c.*155G>C	ENSP00000493147.1:n.*155G>C
ENST00000641811.1:c.167G>C
ENST00000641847.1:n.270G>C
ENST00000641891.1:c.*237G>C	ENSP00000493288.1:n.*237G>C
ENST00000641927.1:n.351G>C
ENST00000641947.1:c.411G>C	ENSP00000492994.1:p.Lys137Asn
ENST00000642021.1:n.533G>C
ENST00000642041.1:c.*450G>C	ENSP00000493415.1:n.*450G>C
ENST00000369407.3:c.309G>C	ENSP00000358415.3:p.Lys103Asn
ENST00000369409.8:c.411G>C	ENSP00000358417.4:p.Lys137Asn
ENST00000462324.1:n.679G>C
ENST00000493622.5:n.600G>C
NM_006623.3:c.411G>C	NP_006614.2:p.Lys137Asn
XM_011541226.1:c.633G>C	XP_011539528.1:p.Lys211Asn
XM_011541227.1:c.555G>C	XP_011539529.1:p.Lys185Asn
XM_011541228.1:c.522G>C	XP_011539530.1:p.Lys174Asn
XM_011541229.1:c.348G>C	XP_011539531.1:p.Lys116Asn
XM_011541230.1:c.126G>C	XP_011539532.1:p.Lys42Asn
XM_011541231.1:c.117G>C	XP_011539533.1:p.Lys39Asn
XM_011541226.2:c.633G>C	XP_011539528.1:p.Lys211Asn
XM_011541227.2:c.555G>C	XP_011539529.1:p.Lys185Asn
XM_011541228.2:c.522G>C	XP_011539530.1:p.Lys174Asn
XM_011541231.2:c.117G>C	XP_011539533.1:p.Lys39Asn
XM_024446338.1:c.522G>C	XP_024302106.1:p.Lys174Asn
NM_006623.4:c.411G>C MANE Select	NP_006614.2:p.Lys137Asn