Canonical Allele Identifier: CA341847588

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269503A>C (hg19) ; chr1:g.119726880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726880A>C , CM000663.2:g.119726880A>C	GRCh38
NC_000001.10:g.120269503A>C , CM000663.1:g.120269503A>C	GRCh37
NC_000001.9:g.120071026A>C	NCBI36
NG_009188.1:g.20085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.386A>C	ENSP00000358417.5:p.Lys129Thr
ENST00000462324.2:n.469A>C
ENST00000641023.2:c.386A>C MANE Select	ENSP00000493175.1:p.Lys129Thr
ENST00000641074.1:c.386A>C	ENSP00000493446.1:p.Lys129Thr
ENST00000641115.1:c.386A>C	ENSP00000493264.1:p.Lys129Thr
ENST00000641213.1:c.*39A>C	ENSP00000493079.1:n.*39A>C
ENST00000641247.1:c.*105A>C	ENSP00000492955.1:n.*105A>C
ENST00000641272.1:c.320A>C	ENSP00000493432.1:p.Lys107Thr
ENST00000641314.1:n.371A>C
ENST00000641371.1:c.300A>C	ENSP00000493305.1:p.Glu100Asp
ENST00000641375.1:c.*222A>C	ENSP00000493089.1:n.*222A>C
ENST00000641491.1:c.*39A>C	ENSP00000493187.1:n.*39A>C
ENST00000641513.1:c.*130A>C	ENSP00000493398.1:n.*130A>C
ENST00000641570.1:c.*105A>C	ENSP00000493213.1:n.*105A>C
ENST00000641573.1:n.474A>C
ENST00000641587.1:c.*97A>C	ENSP00000493453.1:n.*97A>C
ENST00000641597.1:c.386A>C	ENSP00000493382.1:p.Lys129Thr
ENST00000641711.1:n.610A>C
ENST00000641756.1:c.*130A>C	ENSP00000493147.1:n.*130A>C
ENST00000641811.1:c.142A>C
ENST00000641847.1:n.245A>C
ENST00000641891.1:c.*212A>C	ENSP00000493288.1:n.*212A>C
ENST00000641927.1:n.326A>C
ENST00000641947.1:c.386A>C	ENSP00000492994.1:p.Lys129Thr
ENST00000642021.1:n.508A>C
ENST00000642041.1:c.*425A>C	ENSP00000493415.1:n.*425A>C
ENST00000369407.3:c.284A>C	ENSP00000358415.3:p.Lys95Thr
ENST00000369409.8:c.386A>C	ENSP00000358417.4:p.Lys129Thr
ENST00000462324.1:n.654A>C
ENST00000493622.5:n.575A>C
NM_006623.3:c.386A>C	NP_006614.2:p.Lys129Thr
XM_011541226.1:c.608A>C	XP_011539528.1:p.Lys203Thr
XM_011541227.1:c.530A>C	XP_011539529.1:p.Lys177Thr
XM_011541228.1:c.497A>C	XP_011539530.1:p.Lys166Thr
XM_011541229.1:c.323A>C	XP_011539531.1:p.Lys108Thr
XM_011541230.1:c.101A>C	XP_011539532.1:p.Lys34Thr
XM_011541231.1:c.92A>C	XP_011539533.1:p.Lys31Thr
XM_011541226.2:c.608A>C	XP_011539528.1:p.Lys203Thr
XM_011541227.2:c.530A>C	XP_011539529.1:p.Lys177Thr
XM_011541228.2:c.497A>C	XP_011539530.1:p.Lys166Thr
XM_011541231.2:c.92A>C	XP_011539533.1:p.Lys31Thr
XM_024446338.1:c.497A>C	XP_024302106.1:p.Lys166Thr
NM_006623.4:c.386A>C MANE Select	NP_006614.2:p.Lys129Thr