Canonical Allele Identifier: CA341847821

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269707G>T (hg19) ; chr1:g.119727084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727084G>T , CM000663.2:g.119727084G>T	GRCh38
NC_000001.10:g.120269707G>T , CM000663.1:g.120269707G>T	GRCh37
NC_000001.9:g.120071230G>T	NCBI36
NG_009188.1:g.20289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.492G>T	ENSP00000358417.5:p.Met164Ile
ENST00000462324.2:n.575G>T
ENST00000641023.2:c.492G>T MANE Select	ENSP00000493175.1:p.Met164Ile
ENST00000641074.1:c.492G>T	ENSP00000493446.1:p.Met164Ile
ENST00000641115.1:c.492G>T	ENSP00000493264.1:p.Met164Ile
ENST00000641213.1:c.*145G>T	ENSP00000493079.1:n.*145G>T
ENST00000641247.1:c.*211G>T	ENSP00000492955.1:n.*211G>T
ENST00000641272.1:c.426G>T	ENSP00000493432.1:p.Met142Ile
ENST00000641314.1:n.477G>T
ENST00000641371.1:c.406G>T	ENSP00000493305.1:p.Ala136Ser
ENST00000641375.1:c.*328G>T	ENSP00000493089.1:n.*328G>T
ENST00000641455.1:n.37G>T
ENST00000641491.1:c.*145G>T	ENSP00000493187.1:n.*145G>T
ENST00000641570.1:c.*211G>T	ENSP00000493213.1:n.*211G>T
ENST00000641573.1:n.580G>T
ENST00000641587.1:c.*203G>T	ENSP00000493453.1:n.*203G>T
ENST00000641597.1:c.492G>T	ENSP00000493382.1:p.Met164Ile
ENST00000641756.1:c.*236G>T	ENSP00000493147.1:n.*236G>T
ENST00000641811.1:c.248G>T
ENST00000641847.1:n.351G>T
ENST00000641891.1:c.*318G>T	ENSP00000493288.1:n.*318G>T
ENST00000641927.1:n.432G>T
ENST00000641947.1:c.492G>T	ENSP00000492994.1:p.Met164Ile
ENST00000642021.1:n.614G>T
ENST00000369407.3:c.390G>T	ENSP00000358415.3:p.Met130Ile
ENST00000369409.8:c.492G>T	ENSP00000358417.4:p.Met164Ile
ENST00000462324.1:n.760G>T
ENST00000493622.5:n.681G>T
NM_006623.3:c.492G>T	NP_006614.2:p.Met164Ile
XM_011541226.1:c.714G>T	XP_011539528.1:p.Met238Ile
XM_011541227.1:c.636G>T	XP_011539529.1:p.Met212Ile
XM_011541228.1:c.603G>T	XP_011539530.1:p.Met201Ile
XM_011541229.1:c.429G>T	XP_011539531.1:p.Met143Ile
XM_011541230.1:c.207G>T	XP_011539532.1:p.Met69Ile
XM_011541231.1:c.198G>T	XP_011539533.1:p.Met66Ile
XM_011541226.2:c.714G>T	XP_011539528.1:p.Met238Ile
XM_011541227.2:c.636G>T	XP_011539529.1:p.Met212Ile
XM_011541228.2:c.603G>T	XP_011539530.1:p.Met201Ile
XM_011541231.2:c.198G>T	XP_011539533.1:p.Met66Ile
XM_024446338.1:c.603G>T	XP_024302106.1:p.Met201Ile
NM_006623.4:c.492G>T MANE Select	NP_006614.2:p.Met164Ile