Canonical Allele Identifier: CA341847643

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269527A>C (hg19) ; chr1:g.119726904A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726904A>C , CM000663.2:g.119726904A>C	GRCh38
NC_000001.10:g.120269527A>C , CM000663.1:g.120269527A>C	GRCh37
NC_000001.9:g.120071050A>C	NCBI36
NG_009188.1:g.20109A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.410A>C	ENSP00000358417.5:p.Lys137Thr
ENST00000462324.2:n.493A>C
ENST00000641023.2:c.410A>C MANE Select	ENSP00000493175.1:p.Lys137Thr
ENST00000641074.1:c.410A>C	ENSP00000493446.1:p.Lys137Thr
ENST00000641115.1:c.410A>C	ENSP00000493264.1:p.Lys137Thr
ENST00000641213.1:c.*63A>C	ENSP00000493079.1:n.*63A>C
ENST00000641247.1:c.*129A>C	ENSP00000492955.1:n.*129A>C
ENST00000641272.1:c.344A>C	ENSP00000493432.1:p.Lys115Thr
ENST00000641314.1:n.395A>C
ENST00000641371.1:c.324A>C	ENSP00000493305.1:p.Glu108Asp
ENST00000641375.1:c.*246A>C	ENSP00000493089.1:n.*246A>C
ENST00000641491.1:c.*63A>C	ENSP00000493187.1:n.*63A>C
ENST00000641570.1:c.*129A>C	ENSP00000493213.1:n.*129A>C
ENST00000641573.1:n.498A>C
ENST00000641587.1:c.*121A>C	ENSP00000493453.1:n.*121A>C
ENST00000641597.1:c.410A>C	ENSP00000493382.1:p.Lys137Thr
ENST00000641711.1:n.634A>C
ENST00000641756.1:c.*154A>C	ENSP00000493147.1:n.*154A>C
ENST00000641811.1:c.166A>C
ENST00000641847.1:n.269A>C
ENST00000641891.1:c.*236A>C	ENSP00000493288.1:n.*236A>C
ENST00000641927.1:n.350A>C
ENST00000641947.1:c.410A>C	ENSP00000492994.1:p.Lys137Thr
ENST00000642021.1:n.532A>C
ENST00000642041.1:c.*449A>C	ENSP00000493415.1:n.*449A>C
ENST00000369407.3:c.308A>C	ENSP00000358415.3:p.Lys103Thr
ENST00000369409.8:c.410A>C	ENSP00000358417.4:p.Lys137Thr
ENST00000462324.1:n.678A>C
ENST00000493622.5:n.599A>C
NM_006623.3:c.410A>C	NP_006614.2:p.Lys137Thr
XM_011541226.1:c.632A>C	XP_011539528.1:p.Lys211Thr
XM_011541227.1:c.554A>C	XP_011539529.1:p.Lys185Thr
XM_011541228.1:c.521A>C	XP_011539530.1:p.Lys174Thr
XM_011541229.1:c.347A>C	XP_011539531.1:p.Lys116Thr
XM_011541230.1:c.125A>C	XP_011539532.1:p.Lys42Thr
XM_011541231.1:c.116A>C	XP_011539533.1:p.Lys39Thr
XM_011541226.2:c.632A>C	XP_011539528.1:p.Lys211Thr
XM_011541227.2:c.554A>C	XP_011539529.1:p.Lys185Thr
XM_011541228.2:c.521A>C	XP_011539530.1:p.Lys174Thr
XM_011541231.2:c.116A>C	XP_011539533.1:p.Lys39Thr
XM_024446338.1:c.521A>C	XP_024302106.1:p.Lys174Thr
NM_006623.4:c.410A>C MANE Select	NP_006614.2:p.Lys137Thr