Canonical Allele Identifier: CA341847671

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269632G>C (hg19) ; chr1:g.119727009G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727009G>C , CM000663.2:g.119727009G>C	GRCh38
NC_000001.10:g.120269632G>C , CM000663.1:g.120269632G>C	GRCh37
NC_000001.9:g.120071155G>C	NCBI36
NG_009188.1:g.20214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.417G>C	ENSP00000358417.5:p.Met139Ile
ENST00000462324.2:n.500G>C
ENST00000641023.2:c.417G>C MANE Select	ENSP00000493175.1:p.Met139Ile
ENST00000641074.1:c.417G>C	ENSP00000493446.1:p.Met139Ile
ENST00000641115.1:c.417G>C	ENSP00000493264.1:p.Met139Ile
ENST00000641213.1:c.*70G>C	ENSP00000493079.1:n.*70G>C
ENST00000641247.1:c.*136G>C	ENSP00000492955.1:n.*136G>C
ENST00000641272.1:c.351G>C	ENSP00000493432.1:p.Met117Ile
ENST00000641314.1:n.402G>C
ENST00000641371.1:c.331G>C	ENSP00000493305.1:p.Gly111Arg
ENST00000641375.1:c.*253G>C	ENSP00000493089.1:n.*253G>C
ENST00000641491.1:c.*70G>C	ENSP00000493187.1:n.*70G>C
ENST00000641570.1:c.*136G>C	ENSP00000493213.1:n.*136G>C
ENST00000641573.1:n.505G>C
ENST00000641587.1:c.*128G>C	ENSP00000493453.1:n.*128G>C
ENST00000641597.1:c.417G>C	ENSP00000493382.1:p.Met139Ile
ENST00000641711.1:n.641G>C
ENST00000641756.1:c.*161G>C	ENSP00000493147.1:n.*161G>C
ENST00000641811.1:c.173G>C
ENST00000641847.1:n.276G>C
ENST00000641891.1:c.*243G>C	ENSP00000493288.1:n.*243G>C
ENST00000641927.1:n.357G>C
ENST00000641947.1:c.417G>C	ENSP00000492994.1:p.Met139Ile
ENST00000642021.1:n.539G>C
ENST00000642041.1:c.*456G>C	ENSP00000493415.1:n.*456G>C
ENST00000369407.3:c.315G>C	ENSP00000358415.3:p.Met105Ile
ENST00000369409.8:c.417G>C	ENSP00000358417.4:p.Met139Ile
ENST00000462324.1:n.685G>C
ENST00000493622.5:n.606G>C
NM_006623.3:c.417G>C	NP_006614.2:p.Met139Ile
XM_011541226.1:c.639G>C	XP_011539528.1:p.Met213Ile
XM_011541227.1:c.561G>C	XP_011539529.1:p.Met187Ile
XM_011541228.1:c.528G>C	XP_011539530.1:p.Met176Ile
XM_011541229.1:c.354G>C	XP_011539531.1:p.Met118Ile
XM_011541230.1:c.132G>C	XP_011539532.1:p.Met44Ile
XM_011541231.1:c.123G>C	XP_011539533.1:p.Met41Ile
XM_011541226.2:c.639G>C	XP_011539528.1:p.Met213Ile
XM_011541227.2:c.561G>C	XP_011539529.1:p.Met187Ile
XM_011541228.2:c.528G>C	XP_011539530.1:p.Met176Ile
XM_011541231.2:c.123G>C	XP_011539533.1:p.Met41Ile
XM_024446338.1:c.528G>C	XP_024302106.1:p.Met176Ile
NM_006623.4:c.417G>C MANE Select	NP_006614.2:p.Met139Ile