Canonical Allele Identifier: CA341847794

Gene: PHGDH

Linked Data

• MyVariant Identifiers: chr1:g.120269693G>C (hg19) ; chr1:g.119727070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727070G>C , CM000663.2:g.119727070G>C	GRCh38
NC_000001.10:g.120269693G>C , CM000663.1:g.120269693G>C	GRCh37
NC_000001.9:g.120071216G>C	NCBI36
NG_009188.1:g.20275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.478G>C	ENSP00000358417.5:p.Val160Leu
ENST00000462324.2:n.561G>C
ENST00000641023.2:c.478G>C MANE Select	ENSP00000493175.1:p.Val160Leu
ENST00000641074.1:c.478G>C	ENSP00000493446.1:p.Val160Leu
ENST00000641115.1:c.478G>C	ENSP00000493264.1:p.Val160Leu
ENST00000641213.1:c.*131G>C	ENSP00000493079.1:n.*131G>C
ENST00000641247.1:c.*197G>C	ENSP00000492955.1:n.*197G>C
ENST00000641272.1:c.412G>C	ENSP00000493432.1:p.Val138Leu
ENST00000641314.1:n.463G>C
ENST00000641371.1:c.392G>C	ENSP00000493305.1:p.Gly131Ala
ENST00000641375.1:c.*314G>C	ENSP00000493089.1:n.*314G>C
ENST00000641455.1:n.23G>C
ENST00000641491.1:c.*131G>C	ENSP00000493187.1:n.*131G>C
ENST00000641570.1:c.*197G>C	ENSP00000493213.1:n.*197G>C
ENST00000641573.1:n.566G>C
ENST00000641587.1:c.*189G>C	ENSP00000493453.1:n.*189G>C
ENST00000641597.1:c.478G>C	ENSP00000493382.1:p.Val160Leu
ENST00000641711.1:n.702G>C
ENST00000641756.1:c.*222G>C	ENSP00000493147.1:n.*222G>C
ENST00000641811.1:c.234G>C
ENST00000641847.1:n.337G>C
ENST00000641891.1:c.*304G>C	ENSP00000493288.1:n.*304G>C
ENST00000641927.1:n.418G>C
ENST00000641947.1:c.478G>C	ENSP00000492994.1:p.Val160Leu
ENST00000642021.1:n.600G>C
ENST00000369407.3:c.376G>C	ENSP00000358415.3:p.Val126Leu
ENST00000369409.8:c.478G>C	ENSP00000358417.4:p.Val160Leu
ENST00000462324.1:n.746G>C
ENST00000493622.5:n.667G>C
NM_006623.3:c.478G>C	NP_006614.2:p.Val160Leu
XM_011541226.1:c.700G>C	XP_011539528.1:p.Val234Leu
XM_011541227.1:c.622G>C	XP_011539529.1:p.Val208Leu
XM_011541228.1:c.589G>C	XP_011539530.1:p.Val197Leu
XM_011541229.1:c.415G>C	XP_011539531.1:p.Val139Leu
XM_011541230.1:c.193G>C	XP_011539532.1:p.Val65Leu
XM_011541231.1:c.184G>C	XP_011539533.1:p.Val62Leu
XM_011541226.2:c.700G>C	XP_011539528.1:p.Val234Leu
XM_011541227.2:c.622G>C	XP_011539529.1:p.Val208Leu
XM_011541228.2:c.589G>C	XP_011539530.1:p.Val197Leu
XM_011541231.2:c.184G>C	XP_011539533.1:p.Val62Leu
XM_024446338.1:c.589G>C	XP_024302106.1:p.Val197Leu
NM_006623.4:c.478G>C MANE Select	NP_006614.2:p.Val160Leu