Canonical Allele Identifier: CA341847574

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269496T>A (hg19) ; chr1:g.119726873T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726873T>A , CM000663.2:g.119726873T>A	GRCh38
NC_000001.10:g.120269496T>A , CM000663.1:g.120269496T>A	GRCh37
NC_000001.9:g.120071019T>A	NCBI36
NG_009188.1:g.20078T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.379T>A	ENSP00000358417.5:p.Ser127Thr
ENST00000462324.2:n.462T>A
ENST00000641023.2:c.379T>A MANE Select	ENSP00000493175.1:p.Ser127Thr
ENST00000641074.1:c.379T>A	ENSP00000493446.1:p.Ser127Thr
ENST00000641115.1:c.379T>A	ENSP00000493264.1:p.Ser127Thr
ENST00000641213.1:c.*32T>A	ENSP00000493079.1:n.*32T>A
ENST00000641247.1:c.*98T>A	ENSP00000492955.1:n.*98T>A
ENST00000641272.1:c.313T>A	ENSP00000493432.1:p.Ser105Thr
ENST00000641314.1:n.364T>A
ENST00000641371.1:c.293T>A	ENSP00000493305.1:p.Phe98Tyr
ENST00000641375.1:c.*215T>A	ENSP00000493089.1:n.*215T>A
ENST00000641491.1:c.*32T>A	ENSP00000493187.1:n.*32T>A
ENST00000641513.1:c.*123T>A	ENSP00000493398.1:n.*123T>A
ENST00000641570.1:c.*98T>A	ENSP00000493213.1:n.*98T>A
ENST00000641573.1:n.467T>A
ENST00000641587.1:c.*90T>A	ENSP00000493453.1:n.*90T>A
ENST00000641597.1:c.379T>A	ENSP00000493382.1:p.Ser127Thr
ENST00000641711.1:n.603T>A
ENST00000641756.1:c.*123T>A	ENSP00000493147.1:n.*123T>A
ENST00000641811.1:c.135T>A
ENST00000641847.1:n.238T>A
ENST00000641891.1:c.*205T>A	ENSP00000493288.1:n.*205T>A
ENST00000641927.1:n.319T>A
ENST00000641947.1:c.379T>A	ENSP00000492994.1:p.Ser127Thr
ENST00000642021.1:n.501T>A
ENST00000642041.1:c.*418T>A	ENSP00000493415.1:n.*418T>A
ENST00000369407.3:c.277T>A	ENSP00000358415.3:p.Ser93Thr
ENST00000369409.8:c.379T>A	ENSP00000358417.4:p.Ser127Thr
ENST00000462324.1:n.647T>A
ENST00000493622.5:n.568T>A
NM_006623.3:c.379T>A	NP_006614.2:p.Ser127Thr
XM_011541226.1:c.601T>A	XP_011539528.1:p.Ser201Thr
XM_011541227.1:c.523T>A	XP_011539529.1:p.Ser175Thr
XM_011541228.1:c.490T>A	XP_011539530.1:p.Ser164Thr
XM_011541229.1:c.316T>A	XP_011539531.1:p.Ser106Thr
XM_011541230.1:c.94T>A	XP_011539532.1:p.Ser32Thr
XM_011541231.1:c.85T>A	XP_011539533.1:p.Ser29Thr
XM_011541226.2:c.601T>A	XP_011539528.1:p.Ser201Thr
XM_011541227.2:c.523T>A	XP_011539529.1:p.Ser175Thr
XM_011541228.2:c.490T>A	XP_011539530.1:p.Ser164Thr
XM_011541231.2:c.85T>A	XP_011539533.1:p.Ser29Thr
XM_024446338.1:c.490T>A	XP_024302106.1:p.Ser164Thr
NM_006623.4:c.379T>A MANE Select	NP_006614.2:p.Ser127Thr