Canonical Allele Identifier: CA341847665

Gene: PHGDH

Linked Data

• dbSNP Id: rs1336417114
• gnomAD v3: 1-119727007-A-G
• gnomAD v4: 1-119727007-A-G
• MyVariant Identifiers: chr1:g.120269630A>G (hg19) ; chr1:g.119727007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727007A>G , CM000663.2:g.119727007A>G	GRCh38
NC_000001.10:g.120269630A>G , CM000663.1:g.120269630A>G	GRCh37
NC_000001.9:g.120071153A>G	NCBI36
NG_009188.1:g.20212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.415A>G	ENSP00000358417.5:p.Met139Val
ENST00000462324.2:n.498A>G
ENST00000641023.2:c.415A>G MANE Select	ENSP00000493175.1:p.Met139Val
ENST00000641074.1:c.415A>G	ENSP00000493446.1:p.Met139Val
ENST00000641115.1:c.415A>G	ENSP00000493264.1:p.Met139Val
ENST00000641213.1:c.*68A>G	ENSP00000493079.1:n.*68A>G
ENST00000641247.1:c.*134A>G	ENSP00000492955.1:n.*134A>G
ENST00000641272.1:c.349A>G	ENSP00000493432.1:p.Met117Val
ENST00000641314.1:n.400A>G
ENST00000641371.1:c.329A>G	ENSP00000493305.1:p.His110Arg
ENST00000641375.1:c.*251A>G	ENSP00000493089.1:n.*251A>G
ENST00000641491.1:c.*68A>G	ENSP00000493187.1:n.*68A>G
ENST00000641570.1:c.*134A>G	ENSP00000493213.1:n.*134A>G
ENST00000641573.1:n.503A>G
ENST00000641587.1:c.*126A>G	ENSP00000493453.1:n.*126A>G
ENST00000641597.1:c.415A>G	ENSP00000493382.1:p.Met139Val
ENST00000641711.1:n.639A>G
ENST00000641756.1:c.*159A>G	ENSP00000493147.1:n.*159A>G
ENST00000641811.1:c.171A>G
ENST00000641847.1:n.274A>G
ENST00000641891.1:c.*241A>G	ENSP00000493288.1:n.*241A>G
ENST00000641927.1:n.355A>G
ENST00000641947.1:c.415A>G	ENSP00000492994.1:p.Met139Val
ENST00000642021.1:n.537A>G
ENST00000642041.1:c.*454A>G	ENSP00000493415.1:n.*454A>G
ENST00000369407.3:c.313A>G	ENSP00000358415.3:p.Met105Val
ENST00000369409.8:c.415A>G	ENSP00000358417.4:p.Met139Val
ENST00000462324.1:n.683A>G
ENST00000493622.5:n.604A>G
NM_006623.3:c.415A>G	NP_006614.2:p.Met139Val
XM_011541226.1:c.637A>G	XP_011539528.1:p.Met213Val
XM_011541227.1:c.559A>G	XP_011539529.1:p.Met187Val
XM_011541228.1:c.526A>G	XP_011539530.1:p.Met176Val
XM_011541229.1:c.352A>G	XP_011539531.1:p.Met118Val
XM_011541230.1:c.130A>G	XP_011539532.1:p.Met44Val
XM_011541231.1:c.121A>G	XP_011539533.1:p.Met41Val
XM_011541226.2:c.637A>G	XP_011539528.1:p.Met213Val
XM_011541227.2:c.559A>G	XP_011539529.1:p.Met187Val
XM_011541228.2:c.526A>G	XP_011539530.1:p.Met176Val
XM_011541231.2:c.121A>G	XP_011539533.1:p.Met41Val
XM_024446338.1:c.526A>G	XP_024302106.1:p.Met176Val
NM_006623.4:c.415A>G MANE Select	NP_006614.2:p.Met139Val