Canonical Allele Identifier: CA341847592

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269504G>T (hg19) ; chr1:g.119726881G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726881G>T , CM000663.2:g.119726881G>T	GRCh38
NC_000001.10:g.120269504G>T , CM000663.1:g.120269504G>T	GRCh37
NC_000001.9:g.120071027G>T	NCBI36
NG_009188.1:g.20086G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.387G>T	ENSP00000358417.5:p.Lys129Asn
ENST00000462324.2:n.470G>T
ENST00000641023.2:c.387G>T MANE Select	ENSP00000493175.1:p.Lys129Asn
ENST00000641074.1:c.387G>T	ENSP00000493446.1:p.Lys129Asn
ENST00000641115.1:c.387G>T	ENSP00000493264.1:p.Lys129Asn
ENST00000641213.1:c.*40G>T	ENSP00000493079.1:n.*40G>T
ENST00000641247.1:c.*106G>T	ENSP00000492955.1:n.*106G>T
ENST00000641272.1:c.321G>T	ENSP00000493432.1:p.Lys107Asn
ENST00000641314.1:n.372G>T
ENST00000641371.1:c.301G>T	ENSP00000493305.1:p.Gly101Ter
ENST00000641375.1:c.*223G>T	ENSP00000493089.1:n.*223G>T
ENST00000641491.1:c.*40G>T	ENSP00000493187.1:n.*40G>T
ENST00000641513.1:c.*131G>T	ENSP00000493398.1:n.*131G>T
ENST00000641570.1:c.*106G>T	ENSP00000493213.1:n.*106G>T
ENST00000641573.1:n.475G>T
ENST00000641587.1:c.*98G>T	ENSP00000493453.1:n.*98G>T
ENST00000641597.1:c.387G>T	ENSP00000493382.1:p.Lys129Asn
ENST00000641711.1:n.611G>T
ENST00000641756.1:c.*131G>T	ENSP00000493147.1:n.*131G>T
ENST00000641811.1:c.143G>T
ENST00000641847.1:n.246G>T
ENST00000641891.1:c.*213G>T	ENSP00000493288.1:n.*213G>T
ENST00000641927.1:n.327G>T
ENST00000641947.1:c.387G>T	ENSP00000492994.1:p.Lys129Asn
ENST00000642021.1:n.509G>T
ENST00000642041.1:c.*426G>T	ENSP00000493415.1:n.*426G>T
ENST00000369407.3:c.285G>T	ENSP00000358415.3:p.Lys95Asn
ENST00000369409.8:c.387G>T	ENSP00000358417.4:p.Lys129Asn
ENST00000462324.1:n.655G>T
ENST00000493622.5:n.576G>T
NM_006623.3:c.387G>T	NP_006614.2:p.Lys129Asn
XM_011541226.1:c.609G>T	XP_011539528.1:p.Lys203Asn
XM_011541227.1:c.531G>T	XP_011539529.1:p.Lys177Asn
XM_011541228.1:c.498G>T	XP_011539530.1:p.Lys166Asn
XM_011541229.1:c.324G>T	XP_011539531.1:p.Lys108Asn
XM_011541230.1:c.102G>T	XP_011539532.1:p.Lys34Asn
XM_011541231.1:c.93G>T	XP_011539533.1:p.Lys31Asn
XM_011541226.2:c.609G>T	XP_011539528.1:p.Lys203Asn
XM_011541227.2:c.531G>T	XP_011539529.1:p.Lys177Asn
XM_011541228.2:c.498G>T	XP_011539530.1:p.Lys166Asn
XM_011541231.2:c.93G>T	XP_011539533.1:p.Lys31Asn
XM_024446338.1:c.498G>T	XP_024302106.1:p.Lys166Asn
NM_006623.4:c.387G>T MANE Select	NP_006614.2:p.Lys129Asn